Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Autor: Rivka Carmi, Laura Liscum, Marcella E. Comly, Christine R. Kaneski, Marsha Zeigler, Adele Cooney, Roscoe O. Brady, Yiannis A. Ioannou, Peter G. Pentchev, Marc C. Patterson, James W. Nagle, E. Joan Blanchette-Mackie, Maureen E. Higgins, David B. Krizman, J Sokol, Raymond R. O'Neill, Jill A. Morris, Jerome F. Strauss, Stephen L. Sturley, Christiano Cummings, O. P. van Diggelen, Ta-Yuan Chang, Edward B. Neufeld, Danilo A. Tagle, Katherine G. Coleman, Jessie Z. Gu, Kousaku Ohno, Stacie K. Loftus, M H Polymeropoulos, Nancy K. Dwyer, David Markie, Melissa A. Rosenfeld, Marie T. Vanier, Anthony Brown, Eugene D. Carstea, Milan Elleder, Dana Zhang, William J. Pavan
Přispěvatelé: Clinical Genetics
Rok vydání: 1997
Předmět:
7-Dehydrocholesterol reductase
Positional cloning
Molecular Sequence Data
Receptors
Cell Surface
Transfection
Intracellular cholesterol transport
chemistry.chemical_compound
Niemann-Pick C1 Protein
hemic and lymphatic diseases
medicine
Drosophila Proteins
Homeostasis
Humans
Amino Acid Sequence
Cloning
Molecular
Polymorphism
Single-Stranded Conformational
Niemann-Pick Diseases
Membrane Glycoproteins
Multidisciplinary
Niemann–Pick disease
type C
Sequence Homology
Amino Acid
biology
Cholesterol
Intracellular Signaling Peptides and Proteins
Chromosome Mapping
Membrane Proteins
Proteins
nutritional and metabolic diseases
Cholesterol
LDL
medicine.disease
Molecular biology
chemistry
Biochemistry
Mutation
HMG-CoA reductase
biology.protein
Insect Proteins
Hydroxymethylglutaryl CoA Reductases
lipids (amino acids
peptides
and proteins)
NPC1
Carrier Proteins
Chromosomes
Human
Pair 18
Lysosomes
Cholesterol storage
Zdroj: Science, 277, 228-231. American Association for the Advancement of Science
ISSN: 1095-9203
0036-8075
Popis: Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional cloning methods, a gene (NPC1)with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-typeNPC1cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278–amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase.
Databáze: OpenAIRE
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