Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord
about
The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapseAP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 traffickingForty Years of Clathrin-coated VesiclesAdaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegiaContributions of epsinR and gadkin to clathrin-mediated intracellular traffickingStructural and Functional Characterization of Cargo-Binding Sites on the μ4-Subunit of Adaptor Protein Complex 4Cadherin trafficking for tissue morphogenesis: control and consequences.Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes diseaseMicroarray-assisted pathway analysis identifies MT1X & NFκB as mediators of TCRP1-associated resistance to cisplatin in oral squamous cell carcinomaAdaptor Protein-1 Complex Affects the Endocytic Trafficking and Function of Peptidylglycine α-Amidating Monooxygenase, a Luminal CuproenzymeEpileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosisMutations in ap1b1 cause mistargeting of the Na(+)/K(+)-ATPase pump in sensory hair cells.Expression analysis of novel striatal-enriched genes in Huntington disease.Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1.The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors.Adaptor protein complexes and intracellular transport.Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation.Conservation and diversification of dileucine signal recognition by adaptor protein (AP) complex variantsAP-1A controls secretory granule biogenesis and trafficking of membrane secretory granule proteinsFractionation profiling: a fast and versatile approach for mapping vesicle proteomes and protein-protein interactions.Adaptor proteins involved in polarized sortingAn AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Wilson's disease and other neurological copper disorders.Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde traffickingMutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).Signal-mediated, AP-1/clathrin-dependent sorting of transmembrane receptors to the somatodendritic domain of hippocampal neuronsNetwork analysis in the identification of special mechanisms between small cell lung cancer and non-small cell lung cancerThe alternate AP-1 adaptor subunit Apm2 interacts with the Mil1 regulatory protein and confers differential cargo sorting.A hypomorphic mutation of the gamma-1 adaptin gene (Ap1g1) causes inner ear, retina, thyroid, and testes abnormalities in mice.Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.PFOS, PFNA, and PFOA sub-lethal exposure to embryonic zebrafish have different toxicity profiles in terms of morphometrics, behavior and gene expression.Recognition and diagnosis of neuro-ichthyotic syndromes.Golgi in copper homeostasis: a view from the membrane trafficking field.Erythrokeratodermia variabilis et progressiva.Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features.A practical approach to ichthyoses with systemic manifestations.AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway.Copper, zinc and calcium: imaging and quantification in anterior pituitary secretory granules.MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
P2860
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P2860
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@ast
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en-gb
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
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type
label
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@ast
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en-gb
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@nl
altLabel
Disruption of AP1S1, Causing a ...... nt of the Skin and Spinal Cord
@en
prefLabel
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@ast
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en-gb
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@nl
P2093
P2860
P3181
P1433
P1476
Disruption of AP1S1, causing a ...... nt of the skin and spinal cord
@en
P2093
Caroline Meloche
Christian A Drouin
Edna Brustein
Line Lapointe
Michèle Boudreau
Patrick Cossette
Pierre Drapeau
Régen Drouin
Stéphanie Côté
Thomas J Hudson
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1000296
P407
P577
2008-12-01T00:00:00Z