Results 261 to 270 of about 472,601 (312)

Cochlear Implantation for Isoleucyl-tRNA Synthetase Mutation-Associated Mitochondrial Disease: A Case Report. [PDF]

Cureus
Motegi M, Sakurai Y, Mio Y, Ohashi T.
europepmc   +1 more source

Elevated Histone Lactylation Mediates Ferroptosis Resistance in Endometriosis Through the METTL3‐Regulated HIF1A/HMOX1 Signaling Pathway

Advanced Science, EarlyView.
This study reveals that histone lactylation, a modification derived from lactate, plays a crucial role in ferroptosis resistance in ectopic endometrial stromal cells. This resistance is mediated via the HIF1A/HMOX1 pathway regulated by METTL3. In vivo, a combination of 2‐DG and erastin shows promise as an effective treatment for endometriosis ...
Zongwen Liang, Jinming Liu, Yanling Gou, Honglin Wang, Zhi Li, Yingying Cao, Huiyan Zhang, Ruru Bai, Zongfeng Zhang   +8 more
wiley   +1 more source

A novel c.59 C > T variant of the HSD17B10 gene as a possible cause of the neonatal form of HSD10 mitochondrial disease with hepatic dysfunction: a case report and review of the literature. [PDF]

Orphanet J Rare Dis
Jiang T, Ouyang W, Yang H, Li S.
europepmc   +1 more source

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease. [PDF]

Nat Metab
Sung AY, Guerra RM, Steenberge LH, Alston CL, Murayama K, Okazaki Y, Shimura M, Prokisch H, Ghezzi D, Torraco A, Carrozzo R, Rötig A, Taylor RW, Keck JL, Pagliarini DJ.   +14 more
europepmc   +1 more source

The interplay between mitochondria, the gut microbiome and metabolites and their therapeutic potential in primary mitochondrial disease. [PDF]

Front Pharmacol
Zachos KA, Gamboa JA, Dewji AS, Lee J, Brijbassi S, Andreazza AC.   +5 more
europepmc   +1 more source

Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies. [PDF]

J Neurol
Ferreira T, Polavarapu K, Olimpio C, Paramonov I, Lochmüller H, Horvath R.   +5 more
europepmc   +1 more source

Deep learning-driven neuromorphogenesis screenings identify repurposable drugs for mitochondrial disease

Menacho C, Okawa S, Álvarez-Merz I, Wittich A, Muñoz-Oreja M, Lisowski P, Pentimalli TM, Rybak-Wolf A, Inak G, Zakin S, Thevandavakkam M, Petersilie L, Zaliani A, Mlody B, Seibt A, Donnelly J, Woleben K, Fernandez-Checa J, Herebian D, Mayatepek E, Rajewsky N, Spinazzola A, Schuelke M, Perlstein E, Rossi A, Distelmaier F, Holt IJ, Pless O, Rose CR, Del Sol A, Prigione A.   +30 more
europepmc   +1 more source

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Mitochondrial diseases

Neurologic Clinics, 2002
Since the first reports of disorders associated with mitochondrial DNA (mtDNA) defects more than a decade ago, the small mtDNA circle has been a Pandora's box of pathogenic mutations associated with human diseases. The "morbidity map" of mtDNA has gone from one point mutation and a few deletions in 1988 to more than 110 point mutations as of September,
Tuan H, Vu, Michio, Hirano, Salvatore, DiMauro   +2 more
openaire   +4 more sources