[HTML][HTML] Regulation of phospholipid distribution in the lipid bilayer by flippases and scramblases
T Sakuragi, S Nagata - Nature Reviews Molecular Cell Biology, 2023 - nature.com
Cellular membranes function as permeability barriers that separate cells from the external
environment or partition cells into distinct compartments. These membranes are lipid …
environment or partition cells into distinct compartments. These membranes are lipid …
[HTML][HTML] Exposure of phosphatidylserine on the cell surface
Phosphatidylserine (PtdSer) is a phospholipid that is abundant in eukaryotic plasma
membranes. An ATP-dependent enzyme called flippase normally keeps PtdSer inside the …
membranes. An ATP-dependent enzyme called flippase normally keeps PtdSer inside the …
Muscular dystrophies
E Mercuri, CG Bönnemann, F Muntoni - The Lancet, 2019 - thelancet.com
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …
genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes …
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
BRR Nallamilli, S Chakravorty, A Kesari… - Annals of clinical …, 2018 - Wiley Online Library
Objective Limb‐girdle muscular dystrophies (LGMD s), one of the most heterogeneous
neuromuscular disorders (NMD s), involves predominantly proximal‐muscle weakness …
neuromuscular disorders (NMD s), involves predominantly proximal‐muscle weakness …
Anoctamins/TMEM16 proteins: chloride channels flirting with lipids and extracellular vesicles
JM Whitlock, HC Hartzell - Annual review of physiology, 2017 - annualreviews.org
Anoctamin (ANO)/TMEM16 proteins exhibit diverse functions in cells throughout the body
and are implicated in several human diseases. Although the founding members ANO1 …
and are implicated in several human diseases. Although the founding members ANO1 …
Prevalence, pathological mechanisms, and genetic basis of limb‐girdle muscular dystrophies: A review
Limb‐girdle muscular dystrophies (LGMDs) are a highly heterogeneous group of
neuromuscular disorders that are associated with weakness and wasting of muscles in legs …
neuromuscular disorders that are associated with weakness and wasting of muscles in legs …
Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy
DA Griffin, RW Johnson, JM Whitlock… - Human molecular …, 2016 - academic.oup.com
Limb-girdle muscular dystrophies are a genetically diverse group of diseases characterized
by chronic muscle wasting and weakness. Recessive mutations in ANO5 (TMEM16E) have …
by chronic muscle wasting and weakness. Recessive mutations in ANO5 (TMEM16E) have …
[HTML][HTML] ANO5 ensures trafficking of annexins in wounded myofibers
SJ Foltz, YY Cui, HJ Choo, H Hartzell - Journal of Cell Biology, 2021 - rupress.org
Mutations in ANO5 (TMEM16E) cause limb-girdle muscular dystrophy R12. Defective
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …
plasma membrane repair is a likely mechanism. Using myofibers from Ano5 knockout mice …
[HTML][HTML] Panorama of the distal myopathies
M Savarese, J Sarparanta, A Vihola, PH Jonson… - Acta …, 2020 - ncbi.nlm.nih.gov
Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …
in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of …
A role of TMEM16E carrying a scrambling domain in sperm motility
Transmembrane protein 16E (TMEM16E) belongs to the TMEM16 family of proteins that
have 10 transmembrane regions and appears to localize intracellularly. Although TMEM16E …
have 10 transmembrane regions and appears to localize intracellularly. Although TMEM16E …