A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesA mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionRespiratory complex III is required to maintain complex I in mammalian mitochondriaGRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1LCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseMitochondrial disease in childhood: nuclear encodedMitochondrial geneticsYeast mitochondrial biogenesis: a role for the PUF RNA-binding protein Puf3p in mRNA localizationThe deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriersDrug off-target effects predicted using structural analysis in the context of a metabolic network modelThe GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathyA novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.Central nervous system manifestations of mitochondrial disorders.Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation.LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.Renal manifestations of primary mitochondrial disorders.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryMining yeast in silico unearths a golden nugget for mitochondrial biologyA mild impairment of mitochondrial electron transport has sex-specific effects on lifespan and aging in mice.Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Functional inhibition of UQCRB suppresses angiogenesis in zebrafish.A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.AAA+ ATPases: achieving diversity of function with conserved machinery.Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQMitochondrial encephalomyopathies.Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Mitochondriopathies.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Gain of a New Exon by a Lineage-Specific Alu Element-Integration Event in the BCS1L Gene during Primate EvolutionMitochondrial hepatopathies: advances in genetics and pathogenesis.Liver disease in mitochondrial disorders.Systematic screens for human disease genes, from yeast to human and back.Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
P2860
Q21296841-CC732993-81C4-4BC2-AE7F-C7D2EAE34C26Q24300577-5BE7F6F5-7D28-4E6A-AA4E-C92AAB578B9DQ24317119-96A9D7C4-6680-4DFF-BE3C-2065C34A0364Q24322645-CD1EECA7-2771-46DE-B2D3-7FFB8A322B1EQ24617140-8FD382B9-DB94-42FA-828F-EC29051CD4F8Q26770152-6F9F27E8-82C3-4B01-85CE-7541D32EF397Q26820866-4195810D-5A98-4DF3-A862-28CA2A28D4B7Q26849285-40A12156-9D67-4F36-8B5D-AF404957C971Q27301294-9776D36C-A712-4AFA-8B5B-C255AFF2F70AQ28239925-AC442179-C762-4A0F-8F4D-21C46DEDED13Q28475693-810D66E6-F3F9-4AEB-943E-5939A8088E34Q28586216-C6D31D70-E1D3-4CF0-9F2A-930B8D468FF0Q30575264-29E14DCD-8F63-4693-BDE2-D4DA37C475ECQ30887594-9AE873F2-3BF0-444C-A94F-3E6EB7CD2834Q30910075-19ABE3BA-C263-4501-9FBD-38968E125053Q31058031-CF4F4688-F2FD-4F0E-A957-878E6399AE74Q31076216-6BD75C6F-269A-41AC-9A18-A3E79709B866Q32884553-E9616DEC-321C-4BD6-A476-D8A4F8297EA0Q33684731-0A95649C-6C89-43CC-8723-AB029CBB27DDQ33793389-94AF42B5-12A5-42BA-AFD0-0346CBA224EBQ34048532-F498CF99-6544-4825-B3FB-D089367CB476Q34058380-ECD75E8B-632A-401E-B287-6BC5F480C00CQ34064462-3D3DD77A-7F4E-47B8-A081-D01F9BA11D19Q34118230-1ADF70AF-7BE9-4877-A32C-D05F955C8362Q34249675-AF25C10A-48B9-4204-BDF9-A6A22C5D28B6Q34330614-1E0D1746-4391-4872-BA88-1521A21F15FBQ34510948-384BF54F-E330-4DDF-8D4F-A1C275B21EA2Q34614921-86E28C6B-03B1-47E3-B799-EC4621D963D8Q34657128-7C9259BE-5E4F-4781-8218-1D00C781E91CQ34693562-7BA0577C-29F8-4E6E-8382-5894D039043DQ34774345-910C43AD-43D2-49A5-8D4E-4BAB16979D2DQ35085834-C58B6A49-D2B5-4B9C-BF20-61340586A41FQ35190973-A3E31A5B-1C26-4F32-9296-8396FCF6A9BDQ35685889-93B9481C-4FD7-4A73-AC38-0BC59C8266EEQ35687142-70439EFC-E992-4E41-B2E4-4F75F607AC75Q36356737-18251024-54EA-448A-B0E6-FCFAAFD40DD3Q36835622-06B7B763-7CFA-482C-8F2F-36223DE04710Q36903648-8B7ADE00-79AD-443E-B7B9-49303CE63594Q37030590-3A314218-2BDD-44EC-8B92-309F75E2E63BQ37083427-E20E7EA3-80B6-440F-A99A-7576AAE6916F
P2860
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
description
2001 nî lūn-bûn
@nan
2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@ast
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@en
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@nl
type
label
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@ast
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@en
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@nl
prefLabel
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@ast
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@en
A mutant mitochondrial respira ...... ephalopathy and liver failure.
@nl
P2093
P50
P356
P1433
P1476
A mutant mitochondrial respira ...... cephalopathy and liver failure
@en
P2093
A Barrientos
A Tzagoloff
D Chrétien
E Benayoun
H O de Baulny
P2888
P356
10.1038/NG706
P407
P577
2001-09-01T00:00:00Z