A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable

Item
http://www.wikidata.org/entity/Q24564644
Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradationTransport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisThe genetic and molecular bases of monogenic disorders affecting proteolytic systems.Protective protein gene mutations in galactosialidosisGalactosialidosis: review and analysis of CTSA gene mutationsCrystallization of a soluble form of the Kex1p serine carboxypeptidase from Saccharomyces cerevisiae.Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosisNeu5Ac is cleaved from GM3 by NEU1 and 4 to form a globoside (lysosomal lumen)NEU1;4 hydrolyses Neu5Ac from glycoconjugates
P2860

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable

Item
http://www.wikidata.org/entity/Q24564644
description
1991 nî lūn-bûn
@nan
1991 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A mutation in a mild form of g ...... rotein and renders it unstable
@ast
A mutation in a mild form of g ...... rotein and renders it unstable
@en
A mutation in a mild form of g ...... rotein and renders it unstable
@nl
type
label
A mutation in a mild form of g ...... rotein and renders it unstable
@ast
A mutation in a mild form of g ...... rotein and renders it unstable
@en
A mutation in a mild form of g ...... rotein and renders it unstable
@nl
prefLabel
A mutation in a mild form of g ...... rotein and renders it unstable
@ast
A mutation in a mild form of g ...... rotein and renders it unstable
@en
A mutation in a mild form of g ...... rotein and renders it unstable
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
A mutation in a mild form of g ...... rotein and renders it unstable
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932