Membrane trafficking in health and disease

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

(2020) Gokhan Unlu et al.   NATURE MEDICINE

GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation

(2019) Tomasz M. Witkos et al.   Nature Communications

Unraveling the mechanisms of calcium-dependent secretion

(2019) Arun Anantharam et al.   JOURNAL OF GENERAL PHYSIOLOGY

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

(2019) Mohammad Ali Farazi Fard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

(2019) Ingo Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficient Golgi Forward Trafficking Requires GOLPH3-Driven, PI4P-Dependent Membrane Curvature

(2019) Juliati Rahajeng et al.   DEVELOPMENTAL CELL

Disease modelling in human organoids

(2019) Madeline A. Lancaster et al.   Disease Models & Mechanisms

Recent Developments in LRRK2-Targeted Therapy for Parkinson’s Disease

(2019) Ye Zhao et al.   DRUGS

LTK is an ER-resident receptor tyrosine kinase that regulates secretion

(2019) Federica G. Centonze et al.   JOURNAL OF CELL BIOLOGY

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

(2019) Annette Uwineza et al.   European Journal of Medical Genetics

Multitasking Rab Proteins in Autophagy and Membrane Trafficking: A Focus on Rab33b

(2019) Niamh E. Morgan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The PI(4)P phosphatase Sac2 controls insulin granule docking and release

(2019) Phuoc My Nguyen et al.   JOURNAL OF CELL BIOLOGY

A Kinetic View of Membrane Traffic Pathways Can Transcend the Classical View of Golgi Compartments

(2019) Areti Pantazopoulou et al.   Frontiers in Cell and Developmental Biology

Membrane association but not identity is required for LRRK2 activation and phosphorylation of Rab GTPases

(2019) Rachel C. Gomez et al.   JOURNAL OF CELL BIOLOGY

Adaptor protein complexes and disease at a glance

(2019) Anneri Sanger et al.   JOURNAL OF CELL SCIENCE

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

(2019) Kohji Kato et al.   JOURNAL OF MEDICAL GENETICS

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

(2018) Robert Smigiel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

(2018) Dominic Lenz et al.   GENETICS IN MEDICINE

Clathrin-independent endocytosis: an increasing degree of complexity

(2018) Kirsten Sandvig et al.   HISTOCHEMISTRY AND CELL BIOLOGY

COPII-dependent ER export in animal cells: adaptation and control for diverse cargo

(2018) Janine McCaughey et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Non-Canonical Role of Cancer-Associated Mutant SEC23B in the Ribosome Biogenesis Pathway

(2018) Lamis Yehia et al.   HUMAN MOLECULAR GENETICS

Gene therapy comes of age

(2018) Cynthia E. Dunbar et al.   SCIENCE

Perspectives on Glycosylation and Its Congenital Disorders

(2018) Bobby G. Ng et al.   TRENDS IN GENETICS

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer’s Disease

(2018) Andre M. Miranda et al.   Cell Reports

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica

(2018) Wing Lee Chan et al.   PLoS Genetics

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

(2018) Austin A. Larson et al.   Skeletal Muscle

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes

(2018) Ronen Hady-Cohen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Autozygome and high throughput confirmation of disease genes candidacy

(2018) Sateesh Maddirevula et al.   GENETICS IN MEDICINE

Efficient proximity labeling in living cells and organisms with TurboID

(2018) Tess C Branon et al.   NATURE BIOTECHNOLOGY

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

(2018) Kanmin Xue et al.   NATURE MEDICINE

Progress and potential in organoid research

(2018) Giuliana Rossi et al.   NATURE REVIEWS GENETICS

To degrade or not to degrade: mechanisms and significance of endocytic recycling

(2018) Peter J. Cullen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo

(2018) Rami Khoriaty et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The future of humans as model organisms

(2018) Garret FitzGerald et al.   SCIENCE

AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A

(2018) Alexandra K. Davies et al.   Nature Communications

Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation

(2018) Erin L. Slosarek et al.   Cell Reports

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

(2018) Carlos R. Ferreira et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Caveolae: Structure, Function, and Relationship to Disease

(2018) Robert G. Parton   Annual Review of Cell and Developmental Biology

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes

(2018) David C Gershlick et al.   HUMAN MOLECULAR GENETICS

SEC31A mutation affects ER homeostasis, causing neurological syndrome

(2018) Daniel Halperin et al.   JOURNAL OF MEDICAL GENETICS

CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis

(2018) Alberto di Ronza et al.   NATURE CELL BIOLOGY

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Yunis-Varón syndrome caused by biallelic VAC14 mutations

(2017) Matthew A Lines et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Amyloid precursor protein and endosomal–lysosomal dysfunction in Alzheimer’s disease: inseparable partners in a multifactorial disease

(2017) Ralph A. Nixon   FASEB JOURNAL

Mutations of PTPN23 in developmental and epileptic encephalopathy

(2017) Nadine Sowada et al.   HUMAN GENETICS

BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia

(2017) William J. Monis et al.   JOURNAL OF CELL BIOLOGY

A homozygous founder mutation inTRAPPC6Bassociates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

(2017) Isaac Marin-Valencia et al.   JOURNAL OF MEDICAL GENETICS

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

(2017) R Harripaul et al.   MOLECULAR PSYCHIATRY

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2

(2017) Maria Antonietta De Matteis et al.   Nature Reviews Nephrology

AP-4 mediates export of ATG9A from thetrans-Golgi network to promote autophagosome formation

(2017) Rafael Mattera et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GOLPH3 and oncogenesis: What is the molecular link?

(2017) Riccardo Rizzo et al.   TISSUE & CELL

Cellular Functions and Molecular Mechanisms of the ESCRT Membrane-Scission Machinery

(2017) Liliane Christ et al.   TRENDS IN BIOCHEMICAL SCIENCES

Improved split fluorescent proteins for endogenous protein labeling

(2017) Siyu Feng et al.   Nature Communications

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

(2017) Xin-Ming Shen et al.   Annals of Clinical and Translational Neurology

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A

(2016) Chanshuai Han et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

(2016) Kosuke Izumi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

(2016) Guy M. Lenk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal-Recessive Mutations in AP3B2 , Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

(2016) Mirna Assoum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

D NAJC 6 Mutations Associated With Early-Onset Parkinson's Disease

(2016) Simone Olgiati et al.   ANNALS OF NEUROLOGY

Dysregulation of intracellular trafficking and endosomal sorting in Alzheimer's disease: controversies and unanswered questions

(2016) W. H. Toh et al.   BIOCHEMICAL JOURNAL

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

(2016) S. Ammann et al.   BLOOD

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

(2016) Katia Hardies et al.   BRAIN

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

(2016) Lance H Rodan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutation inVPS33Aaffects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms

(2016) Hidehito Kondo et al.   HUMAN MOLECULAR GENETICS

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia

(2016) Gaurav V. Harlalka et al.   HUMAN MUTATION

Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells

(2016) Aleksandra Gil-Krzewska et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

Defects in trafficking bridge Parkinson's disease pathology and genetics

(2016) Asa Abeliovich et al.   NATURE

Spatially resolved proteomic mapping in living cells with the engineered peroxidase APEX2

(2016) Victoria Hung et al.   Nature Protocols

Pluripotent stem cells in disease modelling and drug discovery

(2016) Yishai Avior et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rab35 GTPase: A Central Regulator of Phosphoinositides and F-actin in Endocytic Recycling and Beyond

(2016) Kerstin Klinkert et al.   TRAFFIC

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

(2016) Corinne Stoetzel et al.   Nature Communications

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

(2016) Xiaodong Cai et al.   Scientific Reports

Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer

(2016) Sanaz Manteghi et al.   Cell Reports

Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases

(2016) Martin Steger et al.   eLife

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

(2016) Xiaoyan Ge et al.   npj Genomic Medicine

The 4p16.3 Parkinson Disease Risk Locus Is Associated with GAK Expression and Genes Involved with the Synaptic Vesicle Membrane

(2016) Michael W. Nagle et al.   PLoS One

Rab1-dependent ER–Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS

(2015) Kai Y. Soo et al.   ACTA NEUROPATHOLOGICA

Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering

(2015) M. Hashim Raza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

(2015) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

(2015) Lutz Garbes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

(2015) Wolfgang M. Schmidt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

(2015) Lamis Yehia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

(2015) Nuria Garcia Segarra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

(2015) Celeste Montecchiani et al.   BRAIN

Endocytic membrane trafficking and neurodegenerative disease

(2015) Andrea M. A. Schreij et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Recycling endosomes

(2015) James R Goldenring   CURRENT OPINION IN CELL BIOLOGY

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation

(2015) Yu-Han Chin et al.   HUMAN MOLECULAR GENETICS

Homozygous missense mutation in theLMAN2Lgene segregates with intellectual disability in a large consanguineous Pakistani family

(2015) Rafiullah Rafiullah et al.   JOURNAL OF MEDICAL GENETICS

Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients

(2015) Shimon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Endophilin A2 Promotes TNBC Cell Invasion and Tumor Metastasis

(2015) T. Baldassarre et al.   MOLECULAR CANCER RESEARCH

TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export

(2015) Daniela Stadel et al.   MOLECULAR CELL

The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease

(2015) Ignacio F. Mata et al.   Molecular Neurodegeneration

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

(2015) Levi B Watkin et al.   NATURE GENETICS

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

(2015) Nadirah Damseh et al.   NEUROGENETICS

Identification of an oncogenic RAB protein

(2015) D. B. Wheeler et al.   SCIENCE

Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer

(2015) Nir Ben-Chetrit et al.   Science Signaling

Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease

(2015) Brent J. Ryan et al.   TRENDS IN BIOCHEMICAL SCIENCES

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

(2015) Maria Lidia Mignogna et al.   Nature Communications

The Rab2A GTPase Promotes Breast Cancer Stem Cells and Tumorigenesis via Erk Signaling Activation

(2015) Man-Li Luo et al.   Cell Reports

Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer

(2015) Nir Ben-Chetrit et al.   Science Signaling

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

(2015) Katia Hardies et al.   HUMAN MOLECULAR GENETICS

Genetic variability of the retromer cargo recognition complex in parkinsonism

(2015) Emil K. Gustavsson et al.   MOVEMENT DISORDERS

Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin

(2015) Ekaterina A. Ivanova et al.   PLoS One

AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking

(2014) Niovi Setta-Kaffetzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Golgi defects enhance APP amyloidogenic processing in Alzheimer's disease

(2014) Gunjan Joshi et al.   BIOESSAYS

DNA Damage Triggers Golgi Dispersal via DNA-PK and GOLPH3

(2014) Suzette E. Farber-Katz et al.   CELL

Mutations inCOG2encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation

(2014) H. Kodera et al.   CLINICAL GENETICS

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

(2014) Caroline L. Wiegerinck et al.   GASTROENTEROLOGY

An Oncogenic Protein Golgi Phosphoprotein 3 Up-regulates Cell Migration via Sialylation

(2014) Tomoya Isaji et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Golgi Phosphoprotein 3 Mediates the Golgi Localization and Function of ProteinO-Linked Mannose β-1,2-N-Acetlyglucosaminyltransferase 1

(2014) Natasha A. Pereira et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

(2014) Anas M Alazami et al.   JOURNAL OF MEDICAL GENETICS

VPS53mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

(2014) Miora Feinstein et al.   JOURNAL OF MEDICAL GENETICS

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

(2014) Mike A Nalls et al.   NATURE GENETICS

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

(2014) S. Baulac et al.   NEUROLOGY

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

(2014) X.-M. Shen et al.   NEUROLOGY

The specificity of vesicle traffic to the Golgi is encoded in the golgin coiled-coil proteins

(2014) M. Wong et al.   SCIENCE

Addicted to secrete – novel concepts and targets in cancer therapy

(2014) Nicolas Dejeans et al.   TRENDS IN MOLECULAR MEDICINE

Rab Proteins and the Compartmentalization of the Endosomal System

(2014) A. Wandinger-Ness et al.   Cold Spring Harbor Perspectives in Biology

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

(2013) Ryan P. Liegel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

(2013) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

(2013) Nina Bögershausen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lysosome-related organelles: unusual compartments become mainstream

(2013) Michael S Marks et al.   CURRENT OPINION IN CELL BIOLOGY

The Drosophila GOLPH3 homolog regulates the biosynthesis of heparan sulfate proteoglycans by modulating the retrograde trafficking of exostosins

(2013) Wei-Ling Chang et al.   DEVELOPMENT

The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

(2013) Barbara Royer et al.   EMBO REPORTS

Clinical utility gene card for: Choroideremia

(2013) Mariya Moosajee et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways

(2013) Changdong Wang et al.   EXPERIMENTAL CELL RESEARCH

The role of TLR4 in the pathogenesis of indirect acute lung injury

(2013) Hong Jiang   Frontiers in Bioscience-Landmark

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

Mutations in the COPII Vesicle Component GeneSEC24Bare Associated with Human Neural Tube Defects

(2013) Xue-Yan Yang et al.   HUMAN MUTATION

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

A light-triggered protein secretion system

(2013) Daniel Chen et al.   JOURNAL OF CELL BIOLOGY

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

(2013) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

A novel mutation inKIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort

(2013) Alison M Elliott et al.   JOURNAL OF MEDICAL GENETICS

Lysosomal impairment in Parkinson's disease

(2013) Benjamin Dehay et al.   MOVEMENT DISORDERS

A global analysis of SNX27–retromer assembly and cargo specificity reveals a function in glucose and metal ion transport

(2013) Florian Steinberg et al.   NATURE CELL BIOLOGY

Organization of the ER–Golgi interface for membrane traffic control

(2013) Federica Brandizzi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

(2013) K. Nakhro et al.   NEUROLOGY

P.1.20 GOSR2: A novel form of Congenital Muscular Dystrophy

(2013) L. Tsai et al.   NEUROMUSCULAR DISORDERS

RAB7L1 Interacts with LRRK2 to Modify Intraneuronal Protein Sorting and Parkinson’s Disease Risk

(2013) David A. MacLeod et al.   NEURON

Neurotransmitter Release: The Last Millisecond in the Life of a Synaptic Vesicle

(2013) Thomas C. Südhof   NEURON

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

(2013) C. Beetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Endocytosis and Cancer

(2013) I. Mellman et al.   Cold Spring Harbor Perspectives in Biology

Frontotemporal dementia

(2013) J. D. Warren et al.   BMJ-British Medical Journal

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

(2012) Cynthia V. Bourassa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

(2012) Danit Oz-Levi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ESCRT machinery

(2012) Oliver Schmidt et al.   CURRENT BIOLOGY

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

(2012) Olga S Koutsopoulos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

(2012) Ranad Shaheen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A NovelRAB33BMutation in Smith-McCort Dysplasia

(2012) Nina Dupuis et al.   HUMAN MUTATION

Golgi Phosphoprotein 3 Determines Cell Binding Properties under Dynamic Flow by Controlling Golgi Localization of Core 2N-Acetylglucosaminyltransferase 1

(2012) Mohamed F. Ali et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells

(2012) Kyle J. Roux et al.   JOURNAL OF CELL BIOLOGY

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

(2012) Yifat Zivony-Elboum et al.   JOURNAL OF MEDICAL GENETICS

Selective enrichment of newly synthesized proteins for quantitative secretome analysis

(2012) Katrin Eichelbaum et al.   NATURE BIOTECHNOLOGY

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

(2012) Elizabeth Pohler et al.   NATURE GENETICS

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

Synchronization of secretory protein traffic in populations of cells

(2012) Gaelle Boncompain et al.   NATURE METHODS

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

(2012) Peter Bauer et al.   NEUROGENETICS

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle

(2012) R. Venditti et al.   SCIENCE

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Synaptic Vesicle Endocytosis

(2012) Y. Saheki et al.   Cold Spring Harbor Perspectives in Biology

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

(2011) Danai Bem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

(2011) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management

(2011) C. Gholam et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

FTD and ALS: A Tale of Two Diseases

(2011) R. Ferrari et al.   Current Alzheimer Research

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

(2011) Anna Fassio et al.   HUMAN MOLECULAR GENETICS

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

(2011) Adam C Naj et al.   NATURE GENETICS

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

(2011) Paul Hollingworth et al.   NATURE GENETICS

Direct targeting of Sec23a by miR-200s influences cancer cell secretome and promotes metastatic colonization

(2011) Manav Korpal et al.   NATURE MEDICINE

Molecular mechanism and physiological functions of clathrin-mediated endocytosis

(2011) Harvey T. McMahon et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis

(2011) Caterina Mele et al.   NEW ENGLAND JOURNAL OF MEDICINE

Meta-Analysis for Genome-Wide Association Study Identifies Multiple Variants at the BIN1 Locus Associated with Late-Onset Alzheimer's Disease

(2011) Xiaolan Hu et al.   PLoS One

Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair

(2011) Angela Lek et al.   TRAFFIC

Molecular mechanisms regulating myelination in the peripheral nervous system

(2011) Jorge A. Pereira et al.   TRENDS IN NEUROSCIENCES

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes

(2010) Gyungah Jun   ARCHIVES OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion

(2010) SA Boyadjiev et al.   CLINICAL GENETICS

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

(2010) Guntram Borck et al.   HUMAN GENETICS

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

(2010) J. Lubbehusen et al.   HUMAN MOLECULAR GENETICS

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

(2010) Sudha Seshadri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

COPII-mediated vesicle formation at a glance

(2010) D. Jensen et al.   JOURNAL OF CELL SCIENCE

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

(2010) A. Moreno-De-Luca et al.   JOURNAL OF MEDICAL GENETICS

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly

(2010) N. Maksimova et al.   JOURNAL OF MEDICAL GENETICS

Population and Computational Analysis of the MGEA6 P521A Variation as a Risk Factor for Familial Idiopathic Basal Ganglia Calcification (Fahr’s Disease)

(2010) Roberta R. Lemos et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

α-Synuclein Delays Endoplasmic Reticulum (ER)-to-Golgi Transport in Mammalian Cells by Antagonizing ER/Golgi SNAREs

(2010) Nandhakumar Thayanidhi et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

(2010) Andrew R Cullinane et al.   NATURE GENETICS

TRAPP complexes in membrane traffic: convergence through a common Rab

(2010) Jemima Barrowman et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

(2010) Patrick Smits et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

 -Synuclein Promotes SNARE-Complex Assembly in Vivo and in Vitro

(2010) J. Burre et al.   SCIENCE

A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia

(2010) Mikołaj Słabicki et al.   PLOS BIOLOGY

RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

(2009) Lina Basel-Vanagaite et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

(2009) Orianne Philippe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

(2009) Ganeshwaran H. Mochida et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Open Access Database of Genome-wide Association Results

(2009) Andrew D Johnson et al.   BMC Medical Genetics

Mutant p53 Drives Invasion by Promoting Integrin Recycling

(2009) Patricia A.J. Muller et al.   CELL

The COPI system: Molecular mechanisms and function

(2009) R. Beck et al.   FEBS LETTERS

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

(2009) Ellen Reynders et al.   HUMAN MOLECULAR GENETICS

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene

(2009) Paola Bianchi et al.   HUMAN MUTATION

Dislocation of Rab13 and vasodilator-stimulated phosphoprotein in inactive colon epithelium in patients with Crohn's disease

(2009) Oshitani   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer

(2009) Kenneth L. Scott et al.   NATURE

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

(2009) Klaus Schwarz et al.   NATURE GENETICS

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

(2009) Denise Harold et al.   NATURE GENETICS

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

(2009) L. Al-Qusairi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Role for the CHC22 Clathrin Heavy-Chain Isoform in Human Glucose Metabolism

(2009) S. Vassilopoulos et al.   SCIENCE

Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

(2009) James J. Dowling et al.   PLoS Genetics

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

(2008) Sylvain Hanein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

(2008) Marjan Huizing et al.   Annual Review of Genomics and Human Genetics

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now?

(2008) Jonas Denecke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

(2008) Xuebao Zhang et al.   BRAIN

High Frequency of LMAN1 Abnormalities in Colorectal Tumors with Microsatellite Instability

(2008) N. Roeckel et al.   CANCER RESEARCH

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

(2008) Thomas Müller et al.   NATURE GENETICS

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

(2008) Hans Christian Hennies et al.   NATURE GENETICS

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Exiting the Golgi complex

(2008) Maria Antonietta De Matteis et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

(2008) S. V. Voronov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Golgin GMAP210/TRIP11 Anchors IFT20 to the Golgi Complex

(2008) John A. Follit et al.   PLoS Genetics

Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord

(2008) Alexandre Montpetit et al.   PLoS Genetics

Mint3/X11γ Is an ADP-Ribosylation Factor-dependent Adaptor that Regulates the Traffic of the Alzheimer's Precursor Protein from the Trans-Golgi Network

(2007) Punya Shrivastava-Ranjan et al.   MOLECULAR BIOLOGY OF THE CELL