Cargando…

Systematic analysis of a mitochondrial disease‐causing ND6 mutation in mitochondrial deficiency

BACKGROUND: The m.14487T>C mutation is recognized as a diagnostic mutation of mitochondrial disease during the past 16 years, emerging evidence suggests that mutant loads of m.14487T>C and disease phenotype are not closely correlated. METHODS: Immortalized lymphocytes were generated by cocultu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Deyu, Zhao, Qiongya, Xiong, Jingting, Lou, Xiaoting, Han, Qinxia, Wei, Xiujuan, Xie, Jie, Li, Xueyun, Zhou, Huaibin, Shen, Lijun, Yang, Yanling, Fang, Hezhi, Lyu, Jianxin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216815/ https://www.ncbi.nlm.nih.gov/pubmed/32162843 http://dx.doi.org/10.1002/mgg3.1199

Ejemplares similares

Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation
por: Fang, Hezhi, et al.
Publicado: (2015)

Oncogenic HSP60 regulates mitochondrial oxidative phosphorylation to support Erk1/2 activation during pancreatic cancer cell growth
por: Zhou, Chao, et al.
Publicado: (2018)

Generation and Bioenergetic Profiles of Cybrids with East Asian mtDNA Haplogroups
por: Zhou, Huaibin, et al.
Publicado: (2017)

Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
por: Zhou, Xiyue, et al.
Publicado: (2022)

Mitochondrial supercomplex assembly regulates metabolic features and glutamine dependency in mammalian cells
por: Zhang, Kun, et al.
Publicado: (2023)

Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features
por: Lou, Xiaoting, et al.
Publicado: (2021)

Mitochondrial DNA Haplogroup N9a Negatively Correlates with Incidence of Hepatocellular Carcinoma in Northern China
por: Hua, Shixuan, et al.
Publicado: (2019)

4-Hydroxyphenylpyruvate Dioxygenase-Like Protein Promotes Pancreatic Cancer Cell Progression and Is Associated With Glutamine-Mediated Redox Balance
por: Ye, Xianglai, et al.
Publicado: (2021)

Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
por: Wang, Jing, et al.
Publicado: (2023)

Dataset of mitochondrial genome variants in oncocytic tumors
por: Lyu, Lihua, et al.
Publicado: (2018)

Nuclear gene mutations as the cause of mitochondrial complex III deficiency
por: Fernández-Vizarra, Erika, et al.
Publicado: (2015)

Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family()
por: Fu, Xiaona, et al.
Publicado: (2015)

Cancer type-specific modulation of mitochondrial haplogroups in breast, colorectal and thyroid cancer
por: Fang, Hezhi, et al.
Publicado: (2010)

Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency
por: Ng, Yi Shiau, et al.
Publicado: (2020)

Protective Effect of Mitochondrial ND2 C5178A Gene Mutation on Cell and Mitochondrial Functions
por: Tian, Liuyang, et al.
Publicado: (2021)

Mitochondrial Diabetes Is Associated with the ND4 G11696A Mutation
por: Ding, Yu, et al.
Publicado: (2023)

Protocol for mitochondrial isolation and sub-cellular localization assay for mitochondrial proteins
por: Zhou, Danyi, et al.
Publicado: (2023)

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene
por: Brusa, Roberta, et al.
Publicado: (2020)

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations
por: Yang, Jinling, et al.
Publicado: (2022)

COX6B2 drives metabolic reprogramming toward oxidative phosphorylation to promote metastasis in pancreatic ductal cancer cells
por: Nie, Ke, et al.
Publicado: (2020)

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders
por: Uehara, Natsumi, et al.
Publicado: (2014)

YY1 promotes pancreatic cancer cell proliferation by enhancing mitochondrial respiration
por: Li, Bin, et al.
Publicado: (2022)

The mitochondrial DNA 4,977-bp deletion and its implication in copy number alteration in colorectal cancer
por: Chen, Tao, et al.
Publicado: (2011)

Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases
por: Zou, Weiwei, et al.
Publicado: (2021)

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
por: Alston, Charlotte L, et al.
Publicado: (2012)

Mitochondrial Common Deletion, a Potential Biomarker for Cancer Occurrence, Is Selected against in Cancer Background: A Meta-Analysis of 38 Studies
por: Nie, Hezhongrong, et al.
Publicado: (2013)

Mutations in the Mitochondrial ND1 Gene Are Associated with Postoperative Prognosis of Localized Renal Cell Carcinoma
por: Kim, Hakushi, et al.
Publicado: (2016)

Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer
por: Koshikawa, Nobuko, et al.
Publicado: (2017)

Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis
por: Alharbi, Maram Atallah, et al.
Publicado: (2019)

Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C
por: Khoo, Anthony, et al.
Publicado: (2021)

Mitochondrial Function in Antarctic Nototheniids with ND6 Translocation
por: Mark, Felix C., et al.
Publicado: (2012)

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
por: Ørstavik, Kristin, et al.
Publicado: (2022)

Deficient mitochondrial biogenesis in critical illness: cause, effect, or epiphenomenon?
por: Levy, Richard J, et al.
Publicado: (2007)

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
por: Haack, Tobias B, et al.
Publicado: (2015)

IGF2 deficiency causes mitochondrial defects in skeletal muscle
por: Zhu, Yiyi, et al.
Publicado: (2021)

Mitochondrial Calcium Uniporter Deficiency in Zebrafish Causes Cardiomyopathy With Arrhythmia
por: Langenbacher, Adam D., et al.
Publicado: (2020)

Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation
por: Xu, Xue-Bi, et al.
Publicado: (2019)

Validation of a mitochondrial RNA therapeutic strategy using fibroblasts from a Leigh syndrome patient with a mutation in the mitochondrial ND3 gene
por: Yamada, Yuma, et al.
Publicado: (2020)

A Method for Evaluation of the Level of Circulating Mitochondrial DNA by ND1 and ND2 Genes
por: Ogarkov, O. B., et al.
Publicado: (2022)

Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I
por: Alkhaldi, Hind A., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_9r0btqh3668ggg6hkubglkafqn