TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins
Authors
Keywords
-
Journal
TRAFFIC
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2018-08-30
DOI
10.1111/tra.12615
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features
- (2018) Hussein Sheikh Mohamoud et al. Scientific Reports
- TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
- (2018) Austin A. Larson et al. Skeletal Muscle
- Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1
- (2018) Sarah Duerinckx et al. Molecular Genetics & Genomic Medicine
- The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
- (2017) Jérémie Mortreux et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recent advancements in understanding mammalian O-mannosylation
- (2017) M Osman Sheikh et al. GLYCOBIOLOGY
- The two TRAPP complexes of metazoans have distinct roles and act on different Rab GTPases
- (2017) Falko Riedel et al. JOURNAL OF CELL BIOLOGY
- The TRAPPIII complex activates the GTPase Ypt1 (Rab1) in the secretory pathway
- (2017) Laura L. Thomas et al. JOURNAL OF CELL BIOLOGY
- TRAPPC13 modulates autophagy and the response to Golgi stress
- (2017) Silvia Ramírez-Peinado et al. JOURNAL OF CELL SCIENCE
- 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
- Knockdown of NIK and IKKβ-Binding Protein (NIBP) Reduces Colorectal Cancer Metastasis through Down-Regulation of the Canonical NF-κΒ Signaling Pathway and Suppression of MAPK Signaling Mediated through ERK and JNK
- (2017) Mengbin Qin et al. PLoS One
- Mammalian TRAPPIII Complex positively modulates the recruitment of Sec13/31 onto COPII vesicles
- (2017) Shan Zhao et al. Scientific Reports
- Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
- (2016) Elisa Giorgio et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations
- (2016) Muzammil Ahmad Khan et al. ANNALS OF HUMAN GENETICS
- COPI–TRAPPII activates Rab18 and regulates its lipid droplet association
- (2016) Chunman Li et al. EMBO JOURNAL
- Mutations inTRAPPC11are associated with a congenital disorder of glycosylation
- (2016) Leslie Matalonga et al. HUMAN MUTATION
- GTPase cross talk regulates TRAPPII activation of Rab11 homologues during vesicle biogenesis
- (2016) Laura L. Thomas et al. JOURNAL OF CELL BIOLOGY
- A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
- (2016) Katrin Koehler et al. JOURNAL OF MEDICAL GENETICS
- Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome
- (2016) Samuel D. Quaynor et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- trappc11 is required for protein glycosylation in zebrafish and humans
- (2016) Charles DeRossi et al. MOLECULAR BIOLOGY OF THE CELL
- NIBP impacts on the expression of E-cadherin, CD44 and vimentin in colon cancer via the NF-κB pathway
- (2016) CHUN-YAN XU et al. Molecular Medicine Reports
- A TRAPPC6B splicing variant associates to restless legs syndrome
- (2016) Paolo Aridon et al. PARKINSONISM & RELATED DISORDERS
- A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
- (2016) Jinglan Zhang et al. PLoS Genetics
- The EARP Complex and Its Interactor EIPR-1 Are Required for Cargo Sorting to Dense-Core Vesicles
- (2016) Irini Topalidou et al. PLoS 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
- TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic
- (2015) C. A. Lamb et al. EMBO JOURNAL
- TRAMM/TrappC12 plays a role in chromosome congression, kinetochore stability, and CENP-E recruitment
- (2015) Miroslav P. Milev et al. JOURNAL OF CELL BIOLOGY
- Hypomyelination and developmental delay associated withVPS11mutation in Ashkenazi-Jewish patients
- (2015) Shimon Edvardson et al. JOURNAL OF MEDICAL GENETICS
- EARP is a multisubunit tethering complex involved in endocytic recycling
- (2015) Christina Schindler et al. NATURE CELL BIOLOGY
- Vps33B is required for delivery of endocytosed cargo to lysosomes
- (2015) Romain Galmes et al. TRAFFIC
- New approaches to establish genetic causality
- (2015) Elizabeth M. McNally et al. TRENDS IN CARDIOVASCULAR MEDICINE
- NIK- and IKKβ-binding protein promotes colon cancer metastasis by activating the classical NF-κB pathway and MMPs
- (2015) Mengbin Qin et al. TUMOR BIOLOGY
- Trafficking protein particle complex 6A delta (TRAPPC6AΔ) is an extracellular plaque-forming protein in the brain
- (2015) Jean-Yun Chang et al. Oncotarget
- Elevated NIBP/TRAPPC9 mediates tumorigenesis of cancer cells through NFκB signaling
- (2015) Yonggang Zhang et al. Oncotarget
- Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
- (2015) Wen-Chen Liang et al. Skeletal Muscle
- Mutations inCOG2encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
- (2014) H. Kodera et al. CLINICAL GENETICS
- Crystal structure of the yeast TRAPP-associated protein Tca17
- (2014) Chengcheng Wang et al. FEBS Journal
- A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree
- (2014) X.Y. Xia et al. GENETICS AND MOLECULAR RESEARCH
- Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism
- (2014) Ghayda M. Mirzaa et al. HUMAN GENETICS
- VPS53mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
- (2014) Miora Feinstein et al. JOURNAL OF MEDICAL GENETICS
- The HOPS complex mediates autophagosome–lysosome fusion through interaction with syntaxin 17
- (2014) Peidu Jiang et al. MOLECULAR BIOLOGY OF THE CELL
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda
- (2014) Hiroyuki Adachi et al. PEDIATRICS INTERNATIONAL
- Are All Multisubunit Tethering Complexes Bona Fide Tethers?
- (2014) Stephanie Brunet et al. TRAFFIC
- In Sickness and in Health: The Role of TRAPP and Associated Proteins in Disease
- (2014) Stephanie Brunet et al. TRAFFIC
- Mammalian CORVET Is Required for Fusion and Conversion of Distinct Early Endosome Subpopulations
- (2014) Enrico D. Perini et al. TRAFFIC
- Activating Transcription Factor 6 Is Necessary and Sufficient for Alcoholic Fatty Liver Disease in Zebrafish
- (2014) Deanna L. Howarth et al. PLoS 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
- A Systematic Mammalian Genetic Interaction Map Reveals Pathways Underlying Ricin Susceptibility
- (2013) Michael C. Bassik et al. CELL
- A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree
- (2013) Hui Wang et al. CLINICA CHIMICA ACTA
- Whole exome sequencing and functional studies identify an intronic mutation inTRAPPC2that causes SEDT
- (2013) E.E. Davis et al. CLINICAL GENETICS
- Computational Analysis of TRAPPC9: Candidate Gene for Autosomal Recessive Non-Syndromic Mental Retardation
- (2013) Naureen Khattak et al. CNS & Neurological Disorders-Drug Targets
- Late endosomal transport and tethering are coupled processes controlled by RILP and the cholesterol sensor ORP1L
- (2013) R. van der Kant et al. JOURNAL OF CELL SCIENCE
- Misregulation of autophagy and protein degradation systems in myopathies and muscular dystrophies
- (2013) M. Sandri et al. JOURNAL OF CELL SCIENCE
- Expression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous system
- (2013) Y. Zhang et al. NEUROGASTROENTEROLOGY AND MOTILITY
- MIP-2A Is a Novel Target of an Anilinoquinazoline Derivative for Inhibition of Tumour Cell Proliferation
- (2013) Mayuko Tokunaga et al. PLoS One
- Atrs20Mutation That Mimics an SEDT-Causing Mutation Blocks Selective and Non-Selective Autophagy: A Model for TRAPP III Organization
- (2013) Stephanie Brunet et al. TRAFFIC
- Trs20 is Required for TRAPP II Assembly
- (2013) David Taussig et al. TRAFFIC
- Trs20 is Required for TRAPP III Complex Assembly at the PAS and its Function in Autophagy
- (2013) David Taussig et al. TRAFFIC
- Rab11 proteins in health and disease
- (2012) Eoin E. Kelly et al. BIOCHEMICAL SOCIETY TRANSACTIONS
- TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
- (2012) Giuseppe Marangi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly
- (2012) Naseebullah Kakar et al. European Journal of Medical Genetics
- Modular TRAPP Complexes Regulate Intracellular Protein Trafficking Through Multiple Ypt/Rab GTPases in Saccharomyces cerevisiae
- (2012) S. Zou et al. GENETICS
- Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome
- (2012) Holly Smith et al. HUMAN MUTATION
- Atg9 Vesicles Recruit Vesicle-tethering Proteins Trs85 and Ypt1 to the Autophagosome Formation Site
- (2012) Soichiro Kakuta et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Molecular Insights into Vesicle Tethering at the Golgi by the Conserved Oligomeric Golgi (COG) Complex and the Golgin TATA Element Modulatory Factor (TMF)
- (2012) Victoria J. Miller et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- TRAPPC9 Mediates the Interaction between p150Glued and COPII Vesicles at the Target Membrane
- (2012) Min Zong 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
- Structural and Functional Discussion of the Tetra-Trico-Peptide Repeat, a Protein Interaction Module
- (2012) Natalie Zeytuni et al. STRUCTURE
- X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of aTRAPPC2Mutation in a Korean Pedigree
- (2012) Hyejin Ryu et al. Annals of Laboratory Medicine
- Dystroglycanopathies: coming into focus
- (2011) Caroline Godfrey et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
- (2011) R Abou Jamra et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Activating transcription factor 6 plays protective and pathological roles in steatosis due to endoplasmic reticulum stress in zebrafish
- (2011) Ayca Cinaroglu et al. HEPATOLOGY
- C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking
- (2011) P. James Scrivens et al. MOLECULAR BIOLOGY OF THE CELL
- Sequential interactions with Sec23 control the direction of vesicle traffic
- (2011) Christopher Lord et al. NATURE
- The Adaptor Function of TRAPPC2 in Mammalian TRAPPs Explains TRAPPC2-Associated SEDT and TRAPPC9-Associated Congenital Intellectual Disability
- (2011) Min Zong et al. PLoS One
- Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection
- (2011) Y. Hara et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome
- (2011) C. J. Westlake et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Caspase Activation in Alzheimer's Disease: Early to Rise and Late to Bed
- (2011) Troy T. Rohn et al. REVIEWS IN THE NEUROSCIENCES
- Quantitative Phosphoproteomics Identifies Substrates and Functional Modules of Aurora and Polo-Like Kinase Activities in Mitotic Cells
- (2011) A. N. Kettenbach et al. Science Signaling
- Organization and Assembly of the TRAPPII Complex
- (2011) Catherine Choi et al. TRAFFIC
- A homozygous deletion of 8q24.3 including theNIBPgene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
- (2010) Arie Koifman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Tethering Factors as Organizers of Intracellular Vesicular Traffic
- (2010) I-Mei Yu et al. Annual Review of Cell and Developmental Biology
- The Protein Composition of Mitotic Chromosomes Determined Using Multiclassifier Combinatorial Proteomics
- (2010) Shinya Ohta et al. CELL
- 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
- 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
- Ang2/Fat-Free Is a Conserved Subunit of the Golgi-associated Retrograde Protein Complex
- (2010) F. Javier Pérez-Victoria et al. MOLECULAR BIOLOGY OF THE CELL
- Identification of the first COG–CDG patient of Indian origin
- (2010) Bobby G. Ng et al. MOLECULAR GENETICS AND METABOLISM
- Network organization of the human autophagy system
- (2010) Christian Behrends 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
- Molecular architecture of the TRAPPII complex and implications for vesicle tethering
- (2010) Calvin K Yip et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Trs85 directs a Ypt1 GEF, TRAPPIII, to the phagophore to promote autophagy
- (2010) Molly A. Lynch-Day et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda
- (2009) Mei Y. Choi et al. BIOCHEMICAL JOURNAL
- A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree
- (2009) Xin-Yi Xia et al. CLINICA CHIMICA ACTA
- A genome-wide RNA interference screen identifies two novel components of the metazoan secretory pathway
- (2009) Franz Wendler et al. EMBO JOURNAL
- A new mutation in COG7 extends the spectrum of COG subunit deficiencies
- (2009) Renate Zeevaert et al. European Journal of Medical Genetics
- 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
- A novel RNA-splicing mutation in TRAPPC2 gene causing X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family
- (2009) Hong Guo et al. JOURNAL OF GENETICS
- The Exocyst Protein Sec10 Is Necessary for Primary Ciliogenesis and Cystogenesis In Vitro
- (2009) Xiaofeng Zuo et al. MOLECULAR BIOLOGY OF THE CELL
- Identification of the Neuroblastoma-amplified Gene Product as a Component of the Syntaxin 18 Complex Implicated in Golgi-to-Endoplasmic Reticulum Retrograde Transport
- (2009) Takehiro Aoki et al. MOLECULAR BIOLOGY OF THE CELL
- mTrs130 Is a Component of a Mammalian TRAPPII Complex, a Rab1 GEF That Binds to COPI-coated Vesicles
- (2009) Akinori Yamasaki et al. MOLECULAR BIOLOGY OF THE CELL
- Quantitative Phosphoproteomic Analysis of T Cell Receptor Signaling Reveals System-Wide Modulation of Protein-Protein Interactions
- (2009) V. Mayya et al. Science Signaling
- TRAPPC2L is a Novel, Highly Conserved TRAPP-Interacting Protein
- (2009) P. James Scrivens et al. TRAFFIC
- TRAPP II Complex Assembly Requires Trs33 or Trs65
- (2009) Andrei A. Tokarev et al. TRAFFIC
- NF- B in the Nervous System
- (2009) B. Kaltschmidt et al. Cold Spring Harbor Perspectives in Biology
- The Structural Basis for Activation of the Rab Ypt1p by the TRAPP Membrane-Tethering Complexes
- (2008) Yiying Cai et al. CELL
- Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda
- (2008) Feng Xiong et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Distinct isocomplexes of the TRAPP trafficking factor coexist inside human cells
- (2008) Daniel Kümmel et al. FEBS LETTERS
- Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
- (2008) R. Zeevaert et al. HUMAN MOLECULAR GENETICS
- Requirement of the Human GARP Complex for Mannose 6-phosphate-receptor-dependent Sorting of Cathepsin D to Lysosomes
- (2008) F. Javier Pérez-Victoria et al. MOLECULAR BIOLOGY OF THE CELL
- A quantitative atlas of mitotic phosphorylation
- (2008) N. Dephoure et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started