The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy

Item
http://www.wikidata.org/entity/Q28586216
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.Renal manifestations of primary mitochondrial disorders.Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Biogenesis of the cytochrome bc(1) complex and role of assembly factors.COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation.Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency.Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency.Development of pharmacological strategies for mitochondrial disorders.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyKetogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation.Deficiency of COX7RP, a mitochondrial supercomplex assembly promoting factor, lowers blood glucose level in mice.Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis.
P2860

The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy

Item
http://www.wikidata.org/entity/Q28586216
description
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2011
@ast
im Februar 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2011/02/01)
@sk
vědecký článek publikovaný v roce 2011
@cs
wetenschappelijk artikel (gepubliceerd op 2011/02/01)
@nl
наукова стаття, опублікована в лютому 2011
@uk
مقالة علمية (نشرت في فبراير 2011)
@ar
name
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@ast
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@en
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@nl
type
label
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@ast
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@en
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@nl
prefLabel
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@ast
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@en
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
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P433
P478
P50
P577
P698
P921
P356
P1433
P1476
The GRACILE mutation introduce ...... for mitochondrial hepatopathy
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921