Results 61 to 70 of about 3,285 (240)

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Kexin Fu, Yonglin Huang, Valerie Bowen, Katherine McCurdy, Reina B. Tan, Colin K. L. Phoon, Lindsay Marjoram, Alex Dahlen   +7 more
wiley   +1 more source

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]

, 2019
Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony, Donaldson, Kevin, Emrick, Lisa, Gao, Mingshi, Hou, Ya-Ming, Jiang, Yanjun, Lalani, Seema R., Landsverk, Megan L., Lee, Sansan, Lewis, Andrea M., Li, Meixia, Li, Yuxin, Lin, Jie, Lu, Jiahong, Luo, Sushan, Magoulas, Pilar L., Mei, Hui, Niu, Zhiyv, Oprescu, Stephanie N., Person, Richard E., Rosenfeld, Jill A., Slavin, Thomas P., Song, Jie, Sun, Chong, Walkiewicz, Magdalena, Wang, Yin, Xi, Jianying, Yang, Yaping, Zhang, Victor W., Zhao, Chongbo   +29 more
core   +1 more source

Diabetes mellitus associated with the mitochondrial mutation A3243G: frequency and clinical presentation [PDF]

, 2007
Maternal inherited diabetes and deafness (MIDD) has been related to an A to G transition in the mitochondrial RNA Leu (UUR) at base pair 3243. The prevalence of MIDD in the diabetes population ranges between 0.5-3.0% depending on the ethnic background ...
Ferreira, Sandra Roberta Gouvea, Kalinin, Larissa Bresgunov, Kasamatsu, Teresa, Moises, Regina Celia Mello Santiago, Salles, João Eduardo Nunes   +4 more
core   +3 more sources

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

Progress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian, Vajiheh Aghamollaii, Mohammadreza Mousavipour, Setareh Rassa   +3 more
wiley   +1 more source

T Cell Activation Markers and African Mitochondrial DNA Haplogroups among Non-Hispanic Black Participants in AIDS Clinical Trials Group Study 384 [PDF]

, 2012
Introduction: Mitochondrial function influences T cell dynamics and is affected by mitochondrial DNA (mtDNA) variation. We previously reported an association between African mtDNA haplogroup L2 and less robust CD4 cell recovery on antiretroviral therapy (
AIDS Clinical Trials Group, Benjamin Grady, David C Samuels, David W Haas, Deborah G Murdock, Doug Selph, Gregory K Robbins, Richard B Pollard, Robert Shafer, Spyros A Kalams, Todd Hulgan   +10 more
core   +8 more sources

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, Volume 299, Issue 5, Page 587-603, May 2026.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Sleep and circadian defects in a Drosophila model of mitochondrial encephalomyopathy

Neurobiology of Sleep and Circadian Rhythms, 2019
Mitochondrial encephalomyopathies (ME) are complex, incurable diseases characterized by severe bioenergetic distress that can affect the function of all major organ systems but is especially taxing to neuromuscular tissues. Animal models of MEs are rare,
Keri J. Fogle, Catherina L. Mobini, Abygail S. Paseos, Michael J. Palladino   +3 more
doaj   +1 more source

Mitochondrial disease and endocrine dysfunction [PDF]

, 2017
Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis occurs in these organelles and they provide energy in the form of ATP for hormone production and trafficking.
Achermann, JC, Chow, J, Dattani, MT, Rahman, J, Rahman, S   +4 more
core  

One‐Step and Universal Strategy for the Synthesis of Hypermodified Uracil Phosphoramidites acp3U and cmnm5U

Chemistry – A European Journal, Volume 32, Issue 16, 25 April 2026.
One‐step, highly efficient, and scalable synthesis of acp3U phosphoramidite is described, as well as a new alternative synthesis of cmnm5U phosphoramidite from a highly versatile intermediate. Latter could be scaled‐up, split, and aliquots turned simultaneously into cmnm5U, nm5U, and mnm5U.
Ewa Mejdr, Lena Heinickel, Thomas Carell, Ivana Mejdr   +3 more
wiley   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source