Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
出版年份 2017 全文链接
标题
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
作者
关键词
-
出版物
Oxidative Medicine and Cellular Longevity
Volume 2017, Issue -, Pages 1-11
出版商
Hindawi Limited
发表日期
2017-07-20
DOI
10.1155/2017/7202589
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia
- (2017) Pauline Gaignard et al. JOURNAL OF HUMAN GENETICS
- NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
- (2016) Laura S. Kremer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
- (2016) Cristina Dallabona et al. BRAIN
- Phosphorylation of CytochromecThreonine 28 Regulates Electron Transport Chain Activity in Kidney
- (2016) Gargi Mahapatra et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Severe respiratory complex III defect prevents liver adaptation to prolonged fasting
- (2016) Laura S. Kremer et al. JOURNAL OF HEPATOLOGY
- The architecture of respiratory supercomplexes
- (2016) James A. Letts et al. NATURE
- Mechanism of super-assembly of respiratory complexes III and IV
- (2016) Sara Cogliati et al. NATURE
- COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation
- (2016) Rafael Pérez-Pérez et al. Cell Reports
- Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
- (2015) Johannes Koch et al. Orphanet Journal of Rare Diseases
- Higd1ais a positive regulator of cytochromecoxidase
- (2015) Takaharu Hayashi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Nuclear gene mutations as the cause of mitochondrial complex III deficiency
- (2015) Erika Fernández-Vizarra et al. Frontiers in Genetics
- Characterisation of the active/de-active transition of mitochondrial complex I
- (2014) Marion Babot et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Alterations of oxidative phosphorylation complexes in astrocytomas
- (2014) René Günther Feichtinger et al. GLIA
- A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability
- (2014) Bas F.J. Wanschers et al. HUMAN MOLECULAR GENETICS
- Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia
- (2013) Pauline Gaignard et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Homozygous Mutation inLYRM7/MZM1LAssociated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity
- (2013) Federica Invernizzi et al. HUMAN MUTATION
- Cytochrome c Is Tyrosine 97 Phosphorylated by Neuroprotective Insulin Treatment
- (2013) Thomas H. Sanderson et al. PLoS One
- Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression
- (2013) Elena J. Tucker et al. PLoS Genetics
- Mitochondrial Complex III Deficiency Caused by a HomozygousUQCRC2Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation
- (2012) Noriko Miyake et al. HUMAN MUTATION
- M19 Modulates Skeletal Muscle Differentiation and Insulin Secretion in Pancreatic β-Cells through Modulation of Respiratory Chain Activity
- (2012) Linda Cambier et al. PLoS One
- Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma
- (2010) Rene' G Feichtinger et al. BMC CANCER
- Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
- (2010) María Morán et al. HUMAN MUTATION
- Mutations in Mitochondrial Complex III Uniquely Affect Complex I inCaenorhabditis elegans
- (2010) Wichit Suthammarak et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Lack of complex I is associated with oncocytic thyroid tumours
- (2009) F A Zimmermann et al. BRITISH JOURNAL OF CANCER
- Association of a Novel Mitochondrial Protein M19 with Mitochondrial Nucleoids
- (2009) Megumi Sumitani et al. JOURNAL OF BIOCHEMISTRY
- Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ
- (2008) Ortal Barel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma
- (2008) J. A. Mayr et al. CLINICAL CANCER RESEARCH
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