Rita Horvath's research while affiliated with University of Cambridge and other places
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Publications (3)
Congenital myasthenic syndromes (CMS) are a group of rare, neuromuscular disorders that usually present in childhood or infancy. While the phenotypic presentation of these disorders is diverse, the unifying feature is a pathomechanism that disrupts neuromuscular transmission. Recently, two mitochondrial genes—SLC25A1 and TEFM—have been reported in...
Introduction:
Congenital glycosylation disorders are multisystem diseases with heterogeneous clinical manifestations caused by defects in the synthesis of the glycan moiety of glycoproteins or glycolipids or the binding of glycans to proteins and lipids. DPAGT1 (UDP-GlcNAc: dolichol phosphate N-acetylglucosamine-1-phosphotransferase) is an initiat...
Citations
... We also assessed in a similar manner follow-up reports appearing in the years following an initial report. These findings provided the impetus for, and guided the development of, the proposed new PHELIX (PHEnotype LIsting fiX) reporting guideline checklists, which complement other tools intended to improve phenotyping for rare genetic diseases [5][6][7][8][9]39 . ...
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... (Alchin, 2014;Gatti et al., 2023) Moreover, mitochondria, which are enriched on both sides of the NMJs (Lee & Peng, 2006;Vos et al., 2010), play an important role in maintaining NMJ stability and transmission (Martinez-Pena et al., 2021). Mitochondrial dysfunction is increasingly recognized as a critical contributor to NMJ instability, which leads to skeletal muscle atrophy (Anagnostou & Hepple, 2020;O'Connor et al., 2023;Kim et al., 2023;Rygiel et al., 2016). Given that the causal relationship between NMJ instability and mitochondrial dysfunction in sarcopenia remains unclear, this review explores the pathological mechanisms underlying the relationship between the NMJs and mitochondria in sarcopenia. ...
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