Spinal muscular atrophy: An update on therapeutic progress
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2013 Humans have two nearly identical copies of survival motor neuron gene: SMN1 and SMN2. Deletion or mutation of SMN1 combined with the inability of SMN2 to compensate for the loss of SMN1 results in spinal muscular atrophy (SMA), a leading genetic cause of infant mortality.
Seo, Joonbae +3 more
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Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy. [PDF]
, 2018 Mutations in CAPN3 cause autosomal recessive limb girdle muscular dystrophy 2A. Calpain 3 (CAPN3) is a calcium dependent protease residing in the myofibrillar, cytosolic and triad fractions of skeletal muscle.
Eskin, Ascia +4 more
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Advanced Science, EarlyView.EVs and EV‐microRNAs (miRNAs) mediate PDAC‐skeletal muscle communication. miR‐223‐5p reduces METTL14 transcription by targeting MAFA, which subsequently decreases m6A methylation in skeletal muscles, ultimately leading to muscle wasting. This study highlights the absorption of miRNA in PDAC‐derived EVs by skeletal muscles and reveals a previously ...
Kangjing Xu +7 more
wiley +1 more source
Clinical Remarks on Cases Illustrating the Essential Identity of Progressive Muscular Atrophy and Progressive Bulbar Paralysis [PDF]
, 1884 J. Magee Finny
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HEREDITARY FORM OF PROGRESSIVE MUSCULAR ATROPHY WITH SPINAL LESION IN YOUNG CHILDREN [PDF]
, 1897 F. E. Batten
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Clinical Remarks ON PROGRESSIVE MUSCULAR ATROPHY, [PDF]
The Lancet, 1883 n ...
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Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy.
Archives of Neurology, 2012 P rogressive muscular atrophy (PMA) is an adultonset neurodegenerative disease characterized by progressive loss of lower motor neurons (LMNs). Its disease course ranges from slowly progressive in many years to rapid progression rates similar to those ...
L. Vlam +7 more
semanticscholar +1 more source
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways
Advanced Science, EarlyView.EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen +12 more
wiley +1 more source
Progressive Muscular Atrophy Associated with Primary Muscular Dystrophy in the Second Generation [PDF]
, 1913 Arthur F. Hertz, Wendy Johnson
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A CASE OF PROGRESSIVE MUSCULAR ATROPHY WITH UNILATERAL ATROPHY OF THE TONGUE [PDF]
Brain, 1880 n ...
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