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Membrane Trafficking In Health And Disease

Rebecca Yarwood, John Hellicar, P. Woodman, M. Lowe
Published 2020 · Biology, Medicine

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ABSTRACT Membrane trafficking pathways are essential for the viability and growth of cells, and play a major role in the interaction of cells with their environment. In this At a Glance article and accompanying poster, we outline the major cellular trafficking pathways and discuss how defects in the function of the molecular machinery that mediates this transport lead to various diseases in humans. We also briefly discuss possible therapeutic approaches that may be used in the future treatment of trafficking-based disorders. Summary: This At a Glance article and poster summarise the major intracellular membrane trafficking pathways and associated molecular machineries, and describe how defects in these give rise to disease in humans.
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Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
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VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
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A Novel RAB33B Mutation in Smith–McCort Dysplasia
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Neurotransmitter Release: The Last Millisecond in the Life of a Synaptic Vesicle
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IFT80 is essential for chondrocyte differentiation by regulating Hedgehog and Wnt signaling pathways.
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Mutations in the COPII Vesicle Component Gene SEC24B are Associated with Human Neural Tube Defects
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The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
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Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes
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A light-triggered protein secretion system
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Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure
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The role of TLR4 in the pathogenesis of indirect acute lung injury.
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A global analysis of SNX27–retromer assembly and cargo specificity reveals a function in glucose and metal ion transport
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Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
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Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
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Clinical implications of genetic advances in Charcot–Marie–Tooth disease
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A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
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Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early‐Onset Parkinsonism
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Addicted to secrete - novel concepts and targets in cancer therapy.
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease
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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
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VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
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10.1016/j.ajhg.2014.04.005
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.
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10.1016/j.cell.2013.12.023
DNA Damage Triggers Golgi Dispersal via DNA-PK and GOLPH3
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An Oncogenic Protein Golgi Phosphoprotein 3 Up-regulates Cell Migration via Sialylation*
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NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
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Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability
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Clinical utility gene card for: Choroideremia
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Large-scale metaanalysis of genome-wide association data identifies six new risk loci for Parkinson’s disease
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Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family
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Endo-Lysosomal Dysfunction in Human Proximal Tubular Epithelial Cells Deficient for Lysosomal Cystine Transporter Cystinosin
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Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients
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Rab1-dependent ER–Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS
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The Rab2A GTPase Promotes Breast Cancer Stem Cells and Tumorigenesis via Erk Signaling Activation
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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
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Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
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Endophilin A2 Promotes TNBC Cell Invasion and Tumor Metastasis
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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina
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Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.
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Podocyte endocytosis in the regulation of the glomerular filtration barrier.
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COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
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Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer
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TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export.
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A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
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Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.
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Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.
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Endocytic membrane trafficking and neurodegenerative disease
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Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.
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Identification of an oncogenic RAB protein
Douglas B. Wheeler (2015)
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The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
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The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition
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Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
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Golgi defects enhance APP amyloidogenic processing in Alzheimer's disease
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10.1016/j.ajhg.2015.05.009
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
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Genetic variability of the retromer cargo recognition complex in parkinsonism
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Mutations in COG2
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Disruptive SCYL1 mutations
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Recycling endosomes.Curr
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Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia
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Pluripotent stem cells in disease modelling and drug discovery
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Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia
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Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.
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Author response: Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases
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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
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Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation
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ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease
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Identification of novel genetic causes of Rett syndrome-like phenotypes
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Spatially resolved proteomic mapping in living cells with the engineered peroxidase APEX2.
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The 4p16.3 Parkinson Disease Risk Locus Is Associated with GAK Expression and Genes Involved with the Synaptic Vesicle Membrane
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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
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DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease
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Rab35 GTPase: A Central Regulator of Phosphoinositides and F‐actin in Endocytic Recycling and Beyond
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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
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Defects in trafficking bridge Parkinson's disease pathology and genetics
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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
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Bridging the Gap between Glycosylation and Vesicle Traffic
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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms
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