Cargando…

Quantitative Variation in m.3243A > G Mutation Produce Discrete Changes in Energy Metabolism

Mitochondrial DNA (mtDNA) 3243A > G tRNALeu((UUR)) heteroplasmic mutation (m.3243A > G) exhibits clinically heterogeneous phenotypes. While the high mtDNA heteroplasmy exceeding a critical threshold causes mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes (MELAS) syndr...

Descripción completa

Detalles Bibliográficos
Autores principales:	McMillan, Ryan P., Stewart, Sidney, Budnick, James A., Caswell, Clayton C., Hulver, Matthew W., Mukherjee, Konark, Srivastava, Sarika
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453956/ https://www.ncbi.nlm.nih.gov/pubmed/30962477 http://dx.doi.org/10.1038/s41598-019-42262-2

Ejemplares similares

X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner
por: Srivastava, Sarika, et al.
Publicado: (2016)

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
por: Galna, Brook, et al.
Publicado: (2013)

The Non-Linear Path from Gene Dysfunction to Genetic Disease: Lessons from the MICPCH Mouse Model
por: Mukherjee, Konark, et al.
Publicado: (2022)

Gastrointestinal Involvement in m.3243A>G-associated MELAS
por: Finsterer, Josef, et al.
Publicado: (2017)

The m.3243A>G Genotype Can Be Associated with Rhabdomyolysis
por: Finsterer, Josef
Publicado: (2020)

Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA
por: Henning, F., et al.
Publicado: (2007)

Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G
por: Majamaa-Voltti, Kirsi, et al.
Publicado: (2002)

Three families with ‘de novo’ m.3243A > G mutation
por: de Laat, Paul, et al.
Publicado: (2016)

Mitochondrial m.3243A > G mutation and carotid artery dissection
por: Mancuso, Michelangelo, et al.
Publicado: (2016)

Fear of disease progression in carriers of the m.3243A > G mutation
por: Custers, José A. E., et al.
Publicado: (2018)

Multimodal retinal imaging of m.3243A>G associated retinopathy
por: Romano, Francesco, et al.
Publicado: (2022)

Central Presynaptic Terminals Are Enriched in ATP but the Majority Lack Mitochondria
por: Chavan, Vrushali, et al.
Publicado: (2015)

Correction: Central Presynaptic Terminals Are Enriched in ATP but the Majority Lack Mitochondria
por: Chavan, Vrushali, et al.
Publicado: (2017)

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype
por: Iwanicka-Pronicka, Katarzyna, et al.
Publicado: (2012)

Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity
por: Finsterer, Josef, et al.
Publicado: (2017)

Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients
por: Smeitink, Jan, et al.
Publicado: (2019)

Kidney transplantation in m.3243A>G carriers has outcome implications
por: Finsterer, Josef
Publicado: (2020)

The non-syndromic clinical spectrums of mtDNA 3243A>G mutation
por: Shen, Xiya, et al.
Publicado: (2021)

The Authors' Reply to “The m.3243A>G Genotype Can Be Associated with Rhabdomyolysis”
por: Ito, Hisashi, et al.
Publicado: (2020)

Tongue Root Cyst as a Manifestation of the Variant m.3243A>G
por: Finsterer, Josef
Publicado: (2021)

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients
por: Haast, Roy A. M., et al.
Publicado: (2022)

Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype
por: Li, Danyang, et al.
Publicado: (2022)

Survival of a male patient harboring CASK Arg27Ter mutation to adolescence
por: Mukherjee, Konark, et al.
Publicado: (2020)

Nitric Oxide Synthesis Is Increased in Cybrid Cells with m.3243A>G Mutation
por: Gamba, Juliana, et al.
Publicado: (2012)

Mitochondrial vasculopathy due to the m.3243A > G mutation is not restricted to the carotid artery
por: Finsterer, Josef, et al.
Publicado: (2016)

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
por: Pickett, Sarah J., et al.
Publicado: (2018)

Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier
por: Finsterer, Josef
Publicado: (2021)

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
por: Finsterer, Josef, et al.
Publicado: (2020)

Response to Energy Requirements in m.3243A>G Carriers Depend on Multiple Factors
por: Zweers, Heidi E. E., et al.
Publicado: (2020)

Stroke-Like Lesion in an m.3243A>G Carrier Presenting as Hyperperfusion and Hypometabolism
por: Finsterer, Josef, et al.
Publicado: (2021)

The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models
por: Ryytty, Sanna, et al.
Publicado: (2023)

Data-independent acquisition-based quantitative proteomic analysis of m.3243A>G MELAS reveals novel potential pathogenesis and therapeutic targets
por: Chang, Xueli, et al.
Publicado: (2022)

Authors' Reply to ‘Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity'
por: Tashiro, Ryosuke, et al.
Publicado: (2017)

Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
por: Ramakers, Rob, et al.
Publicado: (2017)

Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers
por: Langdahl, Jakob Høgild, et al.
Publicado: (2019)

The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation
por: Motlagh Scholle, Leila, et al.
Publicado: (2020)

Peculiarities of the m.3243A>G variant in MT-TL1 leave medicine unprecise
por: Finsterer, Josef
Publicado: (2019)

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder
por: Bourke, John P, et al.
Publicado: (2022)

Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
por: Miyahara, Hiroaki, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_t3104fg16uf39k2a1l4g6um4at