Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Millat, G; Marçais, C; Tomasetto, C; Chikh, K; Fensom, A H; Harzer, K; Wenger, D A; Ohno, K; Vanier, M T

Millat, G; Marçais, C; Tomasetto, C; Chikh, K; Fensom, A H; Harzer, K; Wenger, D A; Ohno, K; Vanier, M T.

Affiliation

Millat G; INSERM Unit 189, Lyon-Sud Medical School, Oullins, France.

Am J Hum Genet ; 68(6): 1373-85, 2001 Jun.

Article in En | MEDLINE | ID: mdl-11333381

Subject(s)

Carrier Proteins/chemistry; Carrier Proteins/metabolism; Cysteine/metabolism; Membrane Glycoproteins/chemistry; Membrane Glycoproteins/metabolism; Mutation/genetics; Niemann-Pick Diseases/genetics; Niemann-Pick Diseases/metabolism; Sterols/metabolism; Adolescent; Adult; Biological Transport; Blotting, Western; Carrier Proteins/genetics; Child; Child, Preschool; Cholesterol/metabolism; Consanguinity; Conserved Sequence/genetics; Cysteine/genetics; DNA Mutational Analysis; Exons/genetics; Female; Genetic Variation/genetics; Genotype; Humans; Infant; Infant, Newborn; Intracellular Signaling Peptides and Proteins; Male; Membrane Glycoproteins/genetics; Molecular Sequence Data; Niemann-Pick C1 Protein; Niemann-Pick Diseases/physiopathology; Phenotype; Polymorphism, Single-Stranded Conformational; Protein Conformation; Structure-Activity Relationship

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sterols / Membrane Glycoproteins / Carrier Proteins / Niemann-Pick Diseases / Cysteine / Mutation Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2001 Document type: Article Affiliation country: France Country of publication: United States

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