Results 161 to 170 of about 42,806 (266)

Depletion of plasma thymidine results in growth retardation and mitochondrial myopathy in mice overexpressing human thymidine phosphorylase. [PDF]

J Biol Chem, 2023
Harada N, Nagasaki H, Yamamoto H, Matsubara K, Suzuki T, Gomori A, Yokogawa T, Matsuo K, Miyadera K.   +8 more
europepmc   +1 more source

Caspase‐6 Controls Lipid and Energy Metabolism in Diet‐Induced Obesity

Advanced Science, Volume 13, Issue 21, 13 April 2026.
This study reveals an unknown metabolic role of caspase‐6 beyond cell death. Caspase‐6 deficiency protects against HFD‐induced obesity by increasing energy expenditure, reducing inflammation, and improving glucose metabolism. Mechanistically, caspase‐6 cleaves PPARγ and SP1 to suppress ATGL expression.
Abhishek Gupta, Wenjing You, Linmeng Han, Jianfei Ji, Meixia Pan, Xianlin Han, Xiaoli Sun, Peng Zhao   +7 more
wiley   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT A 55‐year‐old male developed POLG‐related ophthalmoplegia in 2015 and was misdiagnosed with seronegative myasthenia gravis for 10 years. Whole‐genome sequencing identified compound heterozygous POLG mutations, highlighting its value in diagnosing refractory neuromuscular disorders.
Tanli Lu, Huadong Lv, Xiaodan Luo, Xiuying Liu   +3 more
wiley   +1 more source

OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy. [PDF]

J Clin Invest, 2022
Shammas MK, Huang X, Wu BP, Fessler E, Song IY, Randolph NP, Li Y, Bleck CK, Springer DA, Fratter C, Barbosa IA, Powers AF, Quirós PM, Lopez-Otin C, Jae LT, Poulton J, Narendra DP.   +16 more
europepmc   +1 more source

Maternal Undernutrition Alters Fetal Muscle Growth, Metabolism, and Transcriptomic Regulation in Intrauterine Growth Restricted Sheep

Food Science &Nutrition, Volume 14, Issue 4, April 2026.
Maternal undernutrition in late pregnancy restricts fetal skeletal muscle growth and shifts muscle fiber types to fast muscle types. These changes are driven by changes in mitochondrial enzymes and DNA, endoplasmic reticulum stress, and ribosomal activity that predispose postnatal offspring to metabolic disorders.
Yina Qiao, Yilin Yang, Yang Zi, Chi Ma, Min Zhang, Xusheng Hao, Yingchun Liu, Feng Gao   +7 more
wiley   +1 more source

A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban, 2023
Liu H, Gao M, Sun Q, Chen S, Luo Y, Yang H, Li Q, Li J, Yang G.   +8 more
europepmc   +1 more source

Clinicopathologic Characterization of Muscle Biopsy Findings in Overlap Myositis: A Single Tertiary Care Center Experience

Immunity, Inflammation and Disease, Volume 14, Issue 4, April 2026.
ABSTRACT Objective This study aims to describe the muscle biopsy features of overlap myositis (OM) and compare them with other inflammatory myopathies. We analyzed clinical, serological findings, and histopathological patterns in muscle biopsies to understand the features of OM.
Sidra Fatima, Megha Uppin, Liza Rajasekhar, Reshma Sultana Shaik, Derin Mary Thomas, Phani Kumar Devarasetti   +5 more
wiley   +1 more source

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. [PDF]

Saudi J Med Med Sci
Abbas AA, Monagel DA, Althubaiti SJ.
europepmc   +1 more source

Treating mitochondrial myopathy : can we boost oxidative phosphorylation activities by enhancing mitochondrial biogenesis? [PDF]

, 2014
De Paepe, Boel
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