A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

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http://www.wikidata.org/entity/Q37130638
The endosomal-lysosomal system: from acidification and cargo sorting to neurodegenerationDeleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities.A molecular code for endosomal recycling of phosphorylated cargos by the SNX27-retromer complexA human laterality disorder caused by a homozygous deleterious mutation in MMP21Joubert Syndrome in French Canadians and Identification of Mutations in CEP104Sorting nexin 27 interacts with Fzd7 and mediates Wnt signalling.Sorting nexin 27 couples PTHR trafficking to retromer for signal regulation in osteoblasts during bone growth.Atypical parkinsonism-associated retromer mutant alters endosomal sorting of specific cargo proteins.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.GPCR Signaling and Trafficking: The Long and Short of It.The emerging role of retromer in neuroprotection.SNX27, a protein involved in down syndrome, regulates GPR17 trafficking and oligodendrocyte differentiation.The functional roles of retromer in Parkinson's disease.Sorting nexin 27 interactome in T-lymphocytes identifies zona occludens-2 dynamic redistribution at the immune synapse.Recent Findings on AMPA Receptor Recycling
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A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

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http://www.wikidata.org/entity/Q37130638
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 17 April 2015
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@en
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@nl
type
label
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@en
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@nl
prefLabel
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@en
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
A defect in the retromer acces ...... pilepsy and neurodegeneration.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P932