Results 81 to 90 of about 5,286 (150)

Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis. [PDF]

Hum Mol Genet, 2022
Ng KY, Richter U, Jackson CB, Seneca S, Battersby BJ.   +4 more
europepmc   +1 more source

MT-ATP6-related mitochondrial spastic paraplegia [PDF]

, 2020
openaire   +1 more source

Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report. [PDF]

Cureus, 2022
Finsterer J.
europepmc   +1 more source

Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy

Stem Cell Research
Human-derived experimental systems such as induced pluripotent stem cell (iPSC)-derived models are useful tools to study mechanisms and potential therapeutic approaches for mitochondrial disorders.
Anna Maria Haschke, Sebastian Diecke, Markus Schuelke   +2 more
doaj   +1 more source

Mutation Analysis of the Mt-ATP6 Gene in Breast Cancer Tissue Samples of Bangladeshi Women

Bioresearch Communications
Background and aim: Mitochondria are crucial for cellular energy production and apoptosis. It plays a crucial part in the development of cancer. This pilot study looked at mitochondrial ATP6 polymorphisms as a potential preliminary indicator for breast cancer in Bangladeshi women.
Marufa Akter Mim, Sumaiya Farah Khan, Md Aminul Islam, Rokeya Begum, Gazi Nurun Nahar Sultana   +4 more
openaire   +1 more source

Two-stage association study of mitochondrial DNA variants in allergic rhinitis

Allergy, Asthma & Clinical Immunology
Background Correlations between mitochondrial DNA (mtDNA) and allergic rhinitis (AR) have not been reported before. This study aimed to better understand the mitochondrial genome profile with AR and to investigate the associations between AR in China and
Huajie Yuan, Lingling Wang, Song Wang, Linge Li, Qingping Liu, Yan Wang, Yuping Yang, Hua Zhang   +7 more
doaj   +1 more source

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects. [PDF]

J Inherit Metab Dis
Siri B, Martinelli D, Carrozzo R, Boenzi S, Cairoli S, Rizzo C, Giovanniello T, Häberle J, Dionisi-Vici C.   +8 more
europepmc   +1 more source

MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred. [PDF]

Cerebellum
Xiao C, Zhu D, Pryor J, Frutiger SA, Clark HB, Casey HL, Bower M, Yu GY, Du X, Toro C, Gomez CM.   +10 more
europepmc   +1 more source

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

, 2023
Sala D, Marchet S, Nanetti L, Legati A, Mariotti C, Lamantea E, Ghezzi D, Catania A, Lamperti C.   +8 more
europepmc   +1 more source

Manipulation of the miR-378a/mt-ATP6 regulatory axis rescues ATP synthase in the diabetic heart and offers a novel role for lncRNA Kcnq1ot1.

Am J Physiol Cell Physiol, 2022
Durr AJ, Hathaway QA, Kunovac A, Taylor AD, Pinti MV, Rizwan S, Shepherd DL, Cook CC, Fink GK, Hollander JM.   +9 more
europepmc   +1 more source