NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

Show other versions (1)

The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency linked to a Leigh syndrome neurological phenotype. Unexpe...

Full description

Bibliographic Details
Main Authors:	Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Format:	Article
Language:	English
Published:	Elsevier 2013-06-01
Series:	Cell Reports
Online Access:	http://www.sciencedirect.com/science/article/pii/S2211124713002222

Similar Items

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
by: Robert D.S. Pitceathly, et al.
Published: (2013-07-01)

Effects of NDUFA4 Overexpression on Growth of Human Colon Cancer Cells in vitro
by: LIU Shiming, et al.
Published: (2019-05-01)

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder
by: Marianna Alagia, et al.
Published: (2020-03-01)

Correspondence to: “Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency” and “A novel NDUFA1 mutation leads to progressive mitochondrial complex I- specific neurodegenerative disease”
by: Jack Junchi Xu, et al.
Published: (2017-12-01)

NDUFA4L2 promotes trastuzumab resistance in HER2-positive breast cancer
by: Yuan Yuan, et al.
Published: (2021-06-01)

Mitochondrial NDUFA4L2 protein promotes the vitality of lung cancer cells by repressing oxidative stress
by: Lifei Meng, et al.
Published: (2019-04-01)

NDUFA4L2 is associated with clear cell renal cell carcinoma malignancy and is regulated by ELK1
by: Lei Wang, et al.
Published: (2017-11-01)

NDUFA4L2 promotes glioblastoma progression, is associated with poor survival, and can be effectively targeted by apatinib
by: Zheng Chen, et al.
Published: (2021-04-01)

Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering
by: Haokun Zhang, et al.
Published: (2021-01-01)

Novel <i>NDUFA13</i> Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report
by: Adrián González-Quintana, et al.
Published: (2020-07-01)

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
by: Anna Sarkozy, et al.
Published: (2020-08-01)

The complex I subunit NDUFA10 selectively rescues Drosophila pink1 mutants through a mechanism independent of mitophagy.
by: Joe H Pogson, et al.
Published: (2014-11-01)

Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region.
by: Paola Benaglio, et al.
Published: (2010-09-01)

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
by: Sanjeev Rajakulendran, et al.
Published: (2016-01-01)

Targeted Expression of miR-7 Operated by TTF-1 Promoter Inhibited the Growth of Human Lung Cancer through the NDUFA4 Pathway
by: Liangyu Lei, et al.
Published: (2017-03-01)

NDUFA4L2 Regulated by HIF-1α Promotes Metastasis and Epithelial–Mesenchymal Transition of Osteosarcoma Cells Through Inhibiting ROS Production
by: Wen-Ning Xu, et al.
Published: (2020-11-01)

miR-210 in Exosomes Derived from Macrophages under High Glucose Promotes Mouse Diabetic Obesity Pathogenesis by Suppressing NDUFA4 Expression
by: Feng Tian, et al.
Published: (2020-01-01)

Apathy and Reduced Speed of Processing Underlie Decline in Verbal Fluency following DBS
by: Jennifer A. Foley, et al.
Published: (2017-01-01)

Mechanisms underlie the proconvulsant effects of sildenafil
by: Mohammad Reza Zirak, et al.
Published: (2021-02-01)

A novel mutation in the NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 4 (Ndufa4) gene links mitochondrial dysfunction to the development of diabetes in a rodent model
by: Chana Yagil, et al.
Published: (2018-11-01)

Knowledge modelling for the design of hot rolled steel section roll sets
by: Stalker, Iain Duncan
Published: (2001)

Functional neural circuits that underlie developmental stuttering.
by: Jianping Qiao, et al.
Published: (2017-01-01)

Dynamics of DNA methylomes underlie oyster development.
by: Guillaume Riviere, et al.
Published: (2017-06-01)

Does time perception underlie delay discounting?
by: Berman, Rachel Elisabeth
Published: (2013)

The mechanisms underlie the hypothermia therapy in experimental heatstroke
by: Yueh -Ting Chou, et al.
Published: (2003)

Identifying genes that underlie evolution of Antirrhinum species
by: Yang, Chia Ching
Published: (2006)

Molecular Mechanisms that Underlie Duchenne Muscular Dystrophy
by: Babaria, Arati
Published: (2016)

Investigation into the memory processes that underlie judgments of recency
by: Margrove, Kerrie L.
Published: (2009)

Gamma and Beta Bursts Underlie Working Memory
by: Herman, Pawel, et al.
Published: (2017)

Pulsation and stabilization: Contractile forces that underlie morphogenesis
by: Martin, Adam C
Published: (2011)

A Diversity of Intrinsic Timescales Underlie Neural Computations
by: Sean E. Cavanagh, et al.
Published: (2020-12-01)

Nanoscale Subsynaptic Domains Underlie the Organization of the Inhibitory Synapse
by: Kevin C. Crosby, et al.
Published: (2019-03-01)

Neural Tuning Functions Underlie Both Generalization and Interference.
by: Ian S Howard, et al.
Published: (2015-01-01)

Genomic Regions That Underlie Soybean Seed Isoflavone Content
by: K. Meksem, et al.
Published: (2001-01-01)

Neuropeptides SP and CGRP Underlie the Electrical Properties of Acupoints
by: Yu Fan, et al.
Published: (2018-12-01)

RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS).
by: Hyun Ji Ha, et al.
Published: (2018-01-01)

Discovery of genomic intervals that underlie nematode responses to benzimidazoles.
by: Mostafa Zamanian, et al.
Published: (2018-03-01)

Distinct Mechanisms Underlie Attraction Errors and Agreement with Coordination
by: Keung, Lap-Ching
Published: (2017)

Intrinsic OXPHOS limitations underlie cellular bioenergetics in leukemia
by: Margaret AM Nelson, et al.
Published: (2021-06-01)

What Can We Learn From Clinical Trials of Exon Skipping for DMD?
by: Qi-long Lu, et al.
Published: (2014-01-01)