Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
about
A 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 expressionMitochondrial cytochrome c oxidase deficiencyA Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Coexpression within Integrated Mitochondrial Pathways Reveals Different Networks in Normal and Chemically Treated Transcriptomes.Examination of bioenergetic function in the inner mitochondrial membrane peptidase 2-like (Immp2l) mutant mice.A minimal dose of electrically induced muscle activity regulates distinct gene signaling pathways in humans with spinal cord injury.A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Teaching the fundamentals of electron transfer reactions in mitochondria and the production and detection of reactive oxygen species.Low-frequency stimulation regulates metabolic gene expression in paralyzed muscleMicroarray expression profile analysis of mRNAs and long non-coding RNAs in pulmonary tuberculosis with different traditional Chinese medicine syndromesCYC1 Predicts Poor Prognosis in Patients with Breast Cancer.The genetics and pathology of mitochondrial disease.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyAnalysis of transcriptional profiles of Saccharomyces cerevisiae exposed to bisphenol A.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III DeficienciesMitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes.Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.Genome reprogramming in Saccharomyces cerevisiae upon nonylphenol exposure.UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature review
P2860
Q24300577-082E4563-2CCF-4DFE-92F9-055B3F5E5EEBQ24317119-58DE732D-8907-4E7A-A1CF-DEAF1F8D7FDCQ26769015-3152F0AF-8D73-4A97-B9A1-0344FF0F5DF3Q30887594-5034193C-6689-4D4B-B2D5-41DB59CBB69CQ33892701-3FD37F74-9F8F-41B4-930F-8B92AF124615Q34431820-F26CCB21-70A2-4B39-8517-BFF389A2DA61Q34758299-7721F56C-B0E0-48F7-8FD6-1343A499171BQ34862383-64252AB5-9C02-4093-B985-F8C2D879B909Q35143664-F23802B4-9022-4E78-8E4C-E57F044B5F25Q35178575-6537C2BF-F84F-492A-ABC7-38D6E6B0ECFEQ36195458-1BF41BB6-4D24-490A-9E25-1E7979F9F09DQ36894172-6579681D-0E39-476D-8753-F7425721B9B2Q37560946-2B7F4720-F7B9-486A-93F6-8A73A73C2A69Q38443565-93AC6162-4DC3-44C5-A3CC-2D923BA4E839Q38444406-44BF1A75-092E-4C65-AF67-39236F0C8450Q39970753-0B0EB24F-B529-451D-8E58-57CB45EBDEDAQ41211939-A293A809-EFBA-4DA2-B80D-265E25387E90Q42073310-645178CF-52B6-45B5-B019-E2D3A3CE274FQ46869930-4A8E9923-428E-43D0-A191-86BD03CCA089Q47696706-F48DDE79-9F93-4205-B8ED-EBEF9E581F75Q51105220-33AF54D9-F35B-4E40-B734-649B3744E797Q56687740-D64F23E4-56C6-41BA-86B9-D35815596234
P2860
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mutations in CYC1, encoding cy ...... ulin-responsive hyperglycemia.
@en
Mutations in CYC1, encoding cy ...... ulin-responsive hyperglycemia.
@nl
type
label
Mutations in CYC1, encoding cy ...... ulin-responsive hyperglycemia.
@en
Mutations in CYC1, encoding cy ...... ulin-responsive hyperglycemia.
@nl
prefLabel
Mutations in CYC1, encoding cy ...... ulin-responsive hyperglycemia.
@en
Mutations in CYC1, encoding cy ...... ulin-responsive hyperglycemia.
@nl
P2093
P2860
P50
P1476
Mutations in CYC1, encoding cy ...... sulin-responsive hyperglycemia
@en
P2093
Abdelhamid Slama
Alexander Tzagoloff
Anne Lombes
Chen-Hsien Su
Heni Abida
Hélène Ogier de Baulny
Lisa Riley
Malgorzata Rak
Manuel Schiff
P2860
P304
P356
10.1016/J.AJHG.2013.06.015
P407
P577
2013-08-01T00:00:00Z