Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Alleles
Animals
Base Sequence
Chromosomes, Mammalian
/ genetics
Disease Models, Animal
Genetic Background
Intracellular Signaling Peptides and Proteins
/ genetics
Longevity
Lysosomes
/ metabolism
Mice, Inbred BALB C
Mice, Inbred C57BL
Mice, Mutant Strains
Nerve Degeneration
/ pathology
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C
/ pathology
Phenotype
Quantitative Trait Loci
/ genetics
RNA, Messenger
/ genetics
Severity of Illness Index
Survival Analysis
Viscera
/ pathology
Weight Loss
Genetic modifiers
Mouse models
NPC1
Niemann-Pick disease type C1
Journal
Disease models & mechanisms
ISSN: 1754-8411
Titre abrégé: Dis Model Mech
Pays: England
ID NLM: 101483332
Informations de publication
Date de publication:
13 03 2020
13 03 2020
Historique:
received:
15
10
2019
accepted:
14
01
2020
pubmed:
31
1
2020
medline:
30
1
2021
entrez:
31
1
2020
Statut:
epublish
Résumé
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and premature death. NPC1 is extremely heterogeneous in the timing of clinical presentation and is associated with a wide spectrum of causative
Identifiants
pubmed: 31996359
pii: dmm.042614
doi: 10.1242/dmm.042614
pmc: PMC7075069
pii:
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
Niemann-Pick C1 Protein
0
Npc1 protein, mouse
0
RNA, Messenger
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 202834/Z/16/Z
Pays : United Kingdom
Organisme : NIGMS NIH HHS
ID : T32 GM008692
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA HG000068
Pays : United States
Informations de copyright
© 2020. Published by The Company of Biologists Ltd.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing or financial interests.
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