Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
about
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase IMutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorderTwo novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosisA critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosisTripeptidyl-peptidase I in health and disease.Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent mannerNeuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Analysis of NCL Proteins from an Evolutionary Standpoint.N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.The paediatric rheumatologist and orphan disease - a story without happy ending.Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions.Diagnosis of late-infantile neuronal ceroid lipofuscinosis: a new sensitive method to assay lysosomal pepstatin-insensitive proteinase activity in human and animal specimens by capillary electrophoresis.Rat tripeptidyl peptidase I: molecular cloning, functional expression, tissue localization and enzymatic characterization.Maturation of human tripeptidyl-peptidase I in vitro.Glycosaminoglycans modulate activation, activity, and stability of tripeptidyl-peptidase I in vitro and in vivo.Ser475, Glu272, Asp276, Asp327, and Asp360 are involved in catalytic activity of human tripeptidyl-peptidase I.Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
P2860
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P2860
Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին 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
Structural organization and se ...... neuronal ceroid lipofuscinosis
@ast
Structural organization and se ...... neuronal ceroid lipofuscinosis
@en
Structural organization and se ...... neuronal ceroid lipofuscinosis
@nl
type
label
Structural organization and se ...... neuronal ceroid lipofuscinosis
@ast
Structural organization and se ...... neuronal ceroid lipofuscinosis
@en
Structural organization and se ...... neuronal ceroid lipofuscinosis
@nl
prefLabel
Structural organization and se ...... neuronal ceroid lipofuscinosis
@ast
Structural organization and se ...... neuronal ceroid lipofuscinosis
@en
Structural organization and se ...... neuronal ceroid lipofuscinosis
@nl
P2093
P3181
P356
P1433
P1476
Structural organization and se ...... neuronal ceroid lipofuscinosis
@en
P2093
P304
P3181
P356
10.1006/GENO.1998.5328
P407
P577
1998-06-01T00:00:00Z