标题
Membrane trafficking in health and disease
作者
关键词
-
出版物
Disease Models & Mechanisms
Volume 13, Issue 4, Pages dmm043448
出版商
The Company of Biologists
发表日期
2020-04-30
DOI
10.1242/dmm.043448
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- 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
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- (2011) Anna Fassio et al. HUMAN MOLECULAR GENETICS
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- (2011) Adam C Naj et al. NATURE GENETICS
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- (2011) Paul Hollingworth et al. NATURE GENETICS
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- (2011) Manav Korpal et al. NATURE MEDICINE
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- (2011) Harvey T. McMahon et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
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- (2011) Craig Blackstone et al. NATURE REVIEWS NEUROSCIENCE
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- (2011) Mariely DeJesus-Hernandez et al. NEURON
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- (2011) Alan E. Renton et al. NEURON
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- (2011) Caterina Mele et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (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
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- (2011) Jorge A. Pereira et al. TRENDS IN NEUROSCIENCES
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- (2010) Maila Giannandrea et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2010) Christian Guelly et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2010) Gyungah Jun ARCHIVES OF NEUROLOGY
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- (2010) A. Orlacchio et al. BRAIN
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- (2010) SA Boyadjiev et al. CLINICAL GENETICS
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- (2010) Guntram Borck et al. HUMAN GENETICS
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- (2010) J. Lubbehusen et al. HUMAN MOLECULAR GENETICS
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- (2010) Sudha Seshadri JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
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- (2010) D. Jensen et al. JOURNAL OF CELL SCIENCE
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- (2010) A. Moreno-De-Luca et al. JOURNAL OF MEDICAL GENETICS
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- (2010) N. Maksimova et al. JOURNAL OF MEDICAL GENETICS
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- (2010) Roberta R. Lemos et al. JOURNAL OF MOLECULAR NEUROSCIENCE
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- (2010) Nandhakumar Thayanidhi et al. MOLECULAR BIOLOGY OF THE CELL
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- (2010) Hirofumi Maruyama et al. NATURE
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- (2010) Andrew R Cullinane et al. NATURE GENETICS
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- (2010) Jemima Barrowman et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
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- (2010) Patrick Smits et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
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- (2010) J. Burre et al. SCIENCE
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- (2010) Mikołaj Słabicki et al. PLOS BIOLOGY
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- (2009) Lina Basel-Vanagaite et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2009) Clement Y. Chow et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2009) Annemieke J.M.H. Verkerk et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2009) Orianne Philippe et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (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
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- (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
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- (2009) Patricia A.J. Muller et al. CELL
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- (2009) R. Beck et al. FEBS LETTERS
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- (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
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- (2009) Oshitani INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
- GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer
- (2009) Kenneth L. Scott et al. NATURE
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- (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
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- (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
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- (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
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