Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
about
Transport 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: GalactosialidosisLPS-induced cytokine production in human dendritic cells is regulated by sialidase activityThe uterine expression of SEC63 gene is up-regulated at implantation sites in association with the decidualization during the early pregnancy in mice.Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme.Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
P2860
Q24533181-EEEEB2C4-29EC-4C4F-BC51-8F0036CDE919Q30429249-366692DD-9A1B-4B76-9AD1-3F27DF8A71A3Q33787472-ED9C021C-7FBF-4A7A-9004-394D39744A8EQ34378741-34FA42FF-1537-4BAA-BF3F-E61C49A50E61Q37127382-FA703A57-A5AC-4260-A9A2-F5E09F31A543Q40890129-B7FF337D-F968-47C5-9EF0-A176A594F5E8Q41392829-6F8FB90C-9B0F-4819-907C-DBB8A58850AF
P2860
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
description
1996 nî lūn-bûn
@nan
1996 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
name
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@ast
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@en
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@nl
type
label
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@ast
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@en
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@nl
prefLabel
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@ast
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@en
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@nl
P2093
P2860
P1433
P1476
Cathepsin A deficiency in gala ...... s and carriers in 16 families.
@en
P2093
Galjaard H
Galjart NJ
Kleijer WJ
van Diggelen OP
P2860
P304
P356
10.1203/00006450-199606000-00022
P407
P577
1996-06-01T00:00:00Z
P6179
1064208442