Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)

A Gangfuß, A Hentschel, L Heil, M Gonzalez… - Molecular Genetics and …, 2022 - Elsevier
… In conclusion, these findings demonstrate that the phenotype of … POPDC1 is expressed in
skeletal, cardiac and smooth musclemuscle biopsies from our patients, reduced sarcolemmal

A journey with LGMD: from protein abnormalities to patient impact

DG Georganopoulou, VG Moisiadis, FA Malik… - The protein journal, 2021 - Springer
… Meanwhile, better understanding of the phenotype led to the … lead to sarcoglycan protein
deficiency in the sarcolemma. … in skeletal muscle but also in cardiac and smooth muscles [42]…

Factors involved in morphogenesis in the muscle–tendon–bone complex

S Abe, M Yamamoto - International journal of molecular sciences, 2021 - mdpi.com
… a phenotypic transformation of the myocytes at the end of … by stimulation from muscle tonus
mediating the sarcolemma and … for muscles such as smooth muscles that have less clear-cut …

Disrupted calcium homeostasis in duchenne muscular dystrophy: A common mechanism behind diverse consequences

B Zabłocka, DC Górecki, K Zabłocki - International Journal of Molecular …, 2021 - mdpi.com
… homeostasis and the dystrophic phenotype in the total absence of … dystrophin in striated
muscle is located under the sarcolemma. It … In mdx smooth muscle, in which calcium signalling …

The interplay of inflammation, exosomes and Ca2+ dynamics in diabetic cardiomyopathy

SK Sanganalmath, S Dubey, S Veeranki… - Cardiovascular …, 2023 - Springer
transformation into myofibroblast leading to left ventricular dysfunction and worsening
clinical outcomes [1, 2]. Cardiac function … membrane and sarcolemma through different ion …

[HTML][HTML] Essential roles of the dystrophin-glycoprotein complex in different cardiac pathologies

IC Valera, AL Wacker, HS Hwang, C Holmes… - Advances in medical …, 2021 - Elsevier
… domains that is localized at the cytoplasmic side of the sarcolemma [… (cardiac and skeletal)
and smooth muscle. Most of the … [70] and did not exhibit an obvious phenotype, although later …

Implications of Sarcolemmal Ca2+-Handling Proteins in Heart Function in Health and Disease

PS Tappia, SK Bhullar, AK Shah, NS Dhalla - Heart Rate and Rhythm …, 2023 - Springer
… a contractile to a proliferative phenotype in tissue culture [32]. … is mitigated by
angiotensin-converting enzyme inhibitors [54]. … In vascular smooth muscles, angiotensin II may …

A Role for the Sarcolemmal Membrane Associated Protein Isoform 3 in Development

T Rehmani - 2024 - ruor.uottawa.ca
phenotype was not linked to Hippo signaling or cell proliferation as SLMAP3-KO Embryonic
day (E)12.5 hearts showed no changes in Hippo signaling or changes in … of smooth muscle

Implications of Sarcolemmal Ca 2-Handling Proteins in Heart

PS Tappia, SK Bhullar, AK Shah, NS Dhalla - Heart Rate and Rhythm, 2023 - Springer
… a contractile to a proliferative phenotype in tissue culture [32]. … is mitigated by
angiotensin-converting enzyme inhibitors [54]. … In vascular smooth muscles, angiotensin II may …

Therapeutic approaches for Duchenne muscular dystrophy

TC Roberts, MJA Wood, KE Davies - Nature Reviews Drug Discovery, 2023 - nature.com
… at the intracellular surface of the sarcolemma, where it acts as … not disrupt the translation
reading frame lead to an internally … that aim to convert the severe DMD phenotype into the milder …