Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

Item
http://www.wikidata.org/entity/Q24539207
Alpha-mannosidosisMultispeciality Approach in the Management of Patient with Hereditary Gingival Fibromatosis: 1-Year Followup: A Case ReportClinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionPartial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasisA multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.Evidence of genetic heterogeneity for hereditary gingival fibromatosis.Spectrum of mutations in alpha-mannosidosis.amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis.Exome sequencing can improve diagnosis and alter patient management.Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis miceFKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts.Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.Alpha-Mannosidosis: Therapeutic Strategies.
P2860

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis

Item
http://www.wikidata.org/entity/Q24539207
description
1998 nî lūn-bûn
@nan
1998 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@ast
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@en
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@nl
type
label
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@ast
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@en
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@nl
prefLabel
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@ast
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@en
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Missense and nonsense mutation ...... ld forms of alpha-mannosidosis
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932