Results 61 to 70 of about 27,107 (181)

Structural rationale to understand the effect of disease-associated mutations on Myotubularin

Current Research in Structural Biology, 2023
Myotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide.
Teerna Bhattacharyya, Avishek Ghosh, Shailya Verma, Padinjat Raghu, Ramanathan Sowdhamini   +4 more
doaj   +1 more source

Mechanical Stimulation Induces Yap Mediated OCTN2 Transcription to Enhance Carnitine Metabolism in Sarcopenia

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 5, October 2025.
ABSTRACT Background Sarcopenia is a systemic skeletal muscle disease that seriously affects the health of the aged population. Exercise prevents sarcopenia, but the underlying mechanobiological and metabolic mechanisms need to be further investigated. Methods Carnitine and organic cation transporter 2 (OCTN2) levels were assessed in humans and animals ...
Yahong Lu, Yu Bai, Weiqing Li, Zhiguo Zhou, Heihuan Lai, Xingyu Hu, Tao Yang, Chendi Wang, Yitao Chen, Keping Gan, Kechi Li, Haiwei Ma, Lin Shen, Dengwei He   +13 more
wiley   +1 more source

Natural history of six neonates with severe MTM1-related X-linked myotubular myopathy [PDF]

Linchuang erke zazhi
Objective X-linked myotubular myopathy (XLMTM) caused by MTM1 gene variation is a rare neuromuscular disease. Currently, the systematic summary of the early natural history and diagnostic clinical characteristics of XLMTM patients in China is still ...
HU Xiangsong, LIN Yating, ZHU Tianwen
doaj   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, Volume 12, Issue 33, September 4, 2025.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations

, 2001
Although X-linked myotubular myopathy (XLMTM) is a recessive disorder, heterozygous female carriers of MTM1 mutations may present with limb girdle and facial weakness.
Winer, John, McDonald, F, Sutton, Ian, Norman, Andrew, Liediti-Gallati, S   +4 more
core   +4 more sources

Respiratory Muscle Strength in Healthy Children Aged 6 Years and Under: An Observational Study

Pediatric Pulmonology, Volume 60, Issue 9, September 2025.
ABSTRACT Study Question Measurement of respiratory muscle strength is important in the assessment and management of neuromuscular diseases. Reference data are essential for interpretation of clinical findings, but are lacking in infants and young children. This study aimed to provide reference data for maximum inspiratory (PImax) and maximum expiratory
Kayley Noxell, Emily Acquaye, Vicky MacBean   +2 more
wiley   +1 more source

Centronuclear myopathy in a Labrador Retriever presenting for evaluation of a ‘bunny‐hopping’ gait

Veterinary Record Case Reports, Volume 13, Issue 3, September 2025.
Abstract A 3‐year‐old female neutered Labrador Retriever presented with a chronic history of ‘bunny‐hopping’ gait, presumed secondary to hip dysplasia. They exhibited moderate exercise intolerance, developing a stiff, short‐strided gait and collapsing into sternal recumbency after a brief period of exercise.
Aishling Lande, Richard Lawn, Sophie Martin   +2 more
wiley   +1 more source

Myotubular/centronuclear myopathy and central core disease [PDF]

Neurology India, 2008
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy.
Fujimura-Kiyono, Chieko, Racz, Gabor Z., Nishino, Ichizo   +2 more
openaire   +2 more sources

The Myotubularin Related Proteins and the Untapped Interaction Potential of Their Disordered C‐Terminal Regions

Proteins: Structure, Function, and Bioinformatics, Volume 93, Issue 4, Page 831-854, April 2025.
ABSTRACT Intrinsically disordered regions (IDRs) of proteins remain understudied with enigmatic sequence features relevant to their functions. Members of the myotubularin‐related protein (MTMR) family contain uncharacterized IDRs. After decades of research on their phosphatase activity, recent work on the C‐terminal IDRs of MTMR7 revealed new ...
Daniel Saar, Caroline L. E. Lennartsson, Philip Weidner, Elke Burgermeister, Birthe B. Kragelund   +4 more
wiley   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

European Journal of Neurology, Volume 32, Issue 4, April 2025.
ABSTRACT Background Congenital myopathies (CMyo) are a group of rare inherited muscle disorders classified to date according to myopathological features on muscle biopsy. They usually present with an early onset, with a slow or non‐progressive muscle weakness.
Michela Bisciglia, Gianmarco Severa, Norma Beatriz Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, Bruno Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin   +10 more
wiley   +1 more source