Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
about
RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation.The retromer complex - endosomal protein recycling and beyondFunction and regulation of the endosomal fusion and fission machineriesRetromer-mediated endosomal protein sorting: all WASHed up!CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDLMutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresMutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagyHereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndromeNuclear FAM21 participates in NF-κB-dependent gene regulation in pancreatic cancer cells.Strumpellin and Spartin, Hereditary Spastic Paraplegia Proteins, are Binding Partners.Actin Out: Regulation of the Synaptic Cytoskeleton.Cellular functions of WASP family proteins at a glance.FAM21 directs SNX27-retromer cargoes to the plasma membrane by preventing transport to the Golgi apparatusA De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.Cellular pathways of hereditary spastic paraplegia.Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases.Genetic variability of the retromer cargo recognition complex in parkinsonism.Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Sorting nexin 27 interactome in T-lymphocytes identifies zona occludens-2 dynamic redistribution at the immune synapse.Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome.Endosomal Receptor Trafficking: Retromer and Beyond.Wash exhibits context-dependent phenotypes and, along with the WASH regulatory complex, regulates Drosophila oogenesis.Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo
P2860
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P2860
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Identification of a novel cand ...... the WASH complex member SWIP.
@en
Identification of a novel cand ...... the WASH complex member SWIP.
@nl
type
label
Identification of a novel cand ...... the WASH complex member SWIP.
@en
Identification of a novel cand ...... the WASH complex member SWIP.
@nl
prefLabel
Identification of a novel cand ...... the WASH complex member SWIP.
@en
Identification of a novel cand ...... the WASH complex member SWIP.
@nl
P2093
P50
P356
P1476
Identification of a novel cand ...... the WASH complex member SWIP.
@en
P2093
Anna Rajab
Emmanuel Derivery
Fabienne Ropers
Karl Sperling
Martin Herold
Mohsen Karbasiyan
Raymonda Varon
Reinhard Ullmann
P304
P356
10.1093/HMG/DDR158
P577
2011-04-15T00:00:00Z