Drug development for the treatment of RyR1-related skeletal muscle diseases

T Murayama, N Kurebayashi, R Ishida… - Current Opinion in …, 2023 - Elsevier
Abstract Type 1 ryanodine receptor (RyR1) is an intracellular Ca 2+ release channel on the
sarcoplasmic reticulum of skeletal muscle, and it plays a central role in excitation …

Tiny changes in cytoplasmic [Ca2+] cause large changes in mitochondrial Ca2+: what are the triggers and functional implications?

C Seng, L Pearce, A Meizoso-Huesca… - … of Physiology-Cell …, 2022 - journals.physiology.org
Ca2+ is an integral component of the functional and developmental regulation of the
mitochondria. In skeletal muscle, Ca2+ is reported to modulate the rate of ATP resynthesis …

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy

Q Giraud, C Spiegelhalter, N Messaddeq, J Laporte - Brain, 2023 - academic.oup.com
Centronuclear and myotubular myopathies (CNM) are rare and severe genetic diseases
associated with muscle weakness and atrophy as well as intracellular disorganization of …

Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy

B Zambo, E Edelweiss, B Morlet, L Negroni, M Pajkos… - bioRxiv, 2023 - biorxiv.org
Deletion of the protein-protein interaction SH3 domain of the membrane remodeling
amphiphysin 2 (BIN1) protein was found to lead to centronuclear myopathy in patients, yet …

Tiny changes in cytoplasmic [Ca2+] cause large changes in 2 mitochondrial Ca2+: what are the triggers and functional 3 implications? 4

CL Murphy, BS Launikonis - journals.physiology.org
Tiny changes in cytoplasmic [Ca2+] cause large changes in mitochondrial Ca2+: what are the
triggers and functional implications? Page 1 1 1 Tiny changes in cytoplasmic [Ca2+] cause …

[HTML][HTML] X-linked myotubular myopathy

G Akinci - medlink.com
X-linked myotubular myopathy is a form of centronuclear myopathy mainly affecting newborn
boys, but it can sometimes also affect girls and adults. Diagnostic methods have improved …