Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Niemann–Pick disease (NPD) is another type of metabolic disorder that is classified as lysosomal storage diseases (LSDs). The main cause of the disease is mutation in the SMPD1 (type A and B) or NPC1 or NPC2 (type C) genes, which lead to the accumulation of lipid substrates in the lysosomes of the l...

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Bibliographic Details
Published in:	Cell biochemistry and function Vol. 42; no. 4; pp. e4028 - n/a
Main Authors:	Hosseini, Kamran, Fallahi, Jafar, Razban, Vahid, Sirat, Reyhaneh Zayyani, Varasteh, Mahnaz, Tarhriz, Vahideh
Format:	Journal Article
Language:	English
Published:	England Wiley Subscription Services, Inc 01.06.2024
Subjects:	Animals Bone marrow Disease Gene therapy Genes Genetic Therapy Health services Humans Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Lipids Lysosomal storage diseases Lysosomes Medical treatment metabolic disorder Metabolic disorders Mutation Niemann-Pick C1 Protein Niemann-Pick disease Niemann-Pick Disease, Type C - genetics Niemann-Pick Disease, Type C - metabolism Niemann-Pick Disease, Type C - pathology Niemann-Pick Disease, Type C - therapy Niemann-Pick Diseases - genetics Niemann-Pick Diseases - metabolism Niemann-Pick Diseases - pathology Niemann-Pick Diseases - therapy NPC Npc1 protein Signs and symptoms Sphingomyelin Phosphodiesterase - genetics Sphingomyelin Phosphodiesterase - metabolism Substrates Vesicular Transport Proteins - genetics Vesicular Transport Proteins - metabolism NPC gene therapy lysosomal storage diseases metabolic disorder Niemann–Pick disease
ISSN:	0263-6484, 1099-0844, 1099-0844
Online Access:	Get full text
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