Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease
A Michelucci, M García-Castañeda, S Boncompagni… - Cell calcium, 2018 - Elsevier
Abstract Store-operated Ca 2+ entry (SOCE) is a Ca 2+ entry mechanism activated by
depletion of intracellular Ca 2+ stores. In skeletal muscle, SOCE is mediated by an …
depletion of intracellular Ca 2+ stores. In skeletal muscle, SOCE is mediated by an …
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome
Abstract Calcium (Ca 2+) is a key regulator for a large number of cellular functions in all
kinds of cells, and small disturbances of Ca 2+ homeostasis can severely compromise …
kinds of cells, and small disturbances of Ca 2+ homeostasis can severely compromise …
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
V Nesin, G Wiley, M Kousi, EC Ong… - Proceedings of the …, 2014 - National Acad Sciences
Signaling through the store-operated Ca2+ release-activated Ca2+ (CRAC) channel
regulates critical cellular functions, including gene expression, cell growth and …
regulates critical cellular functions, including gene expression, cell growth and …
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
Y Endo, S Noguchi, Y Hara, YK Hayashi… - Human molecular …, 2015 - academic.oup.com
The store-operated Ca2+ release-activated Ca2+ (CRAC) channel is activated by
diminished luminal Ca2+ levels in the endoplasmic reticulum and sarcoplasmic reticulum …
diminished luminal Ca2+ levels in the endoplasmic reticulum and sarcoplasmic reticulum …
Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatine kinase deficiencies
K Steeghs, A Benders, F Oerlemans, A De Haan… - Cell, 1997 - cell.com
We have blocked creatine kinase (CK)-mediated phosphocreatine (PCr)⇃ ATP
transphosphorylation in skeletal muscle by combining targeted mutations in the genes …
transphosphorylation in skeletal muscle by combining targeted mutations in the genes …
ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy
J Böhm, M Bulla, JE Urquhart, E Malfatti… - Human …, 2017 - Wiley Online Library
ABSTRACT Calcium (Ca2+) is a physiological key factor, and the precise modulation of free
cytosolic Ca2+ levels regulates multiple cellular functions. Store‐operated Ca2+ entry …
cytosolic Ca2+ levels regulates multiple cellular functions. Store‐operated Ca2+ entry …
Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle
S Boncompagni, C Pecorai, A Michelucci… - Frontiers in …, 2021 - frontiersin.org
Tubular aggregates (TAs) in skeletal muscle fibers are unusual accumulation of
sarcoplasmic reticulum (SR) tubes that are found in different disorders including TA …
sarcoplasmic reticulum (SR) tubes that are found in different disorders including TA …
Botulinum toxin paralysis of adult monkey extraocular muscle: structural alterations in orbital, singly innervated muscle fibers
RF Spencer, KW McNeer - Archives of Ophthalmology, 1987 - jamanetwork.com
• Botulinum toxin was injected into the medial rectus muscles of adult rhesus monkeys, with
postinjection survival periods of three to 56 days. Light and electron microscopic changes …
postinjection survival periods of three to 56 days. Light and electron microscopic changes …
Calcium entry units (CEUs): Perspectives in skeletal muscle function and disease
F Protasi, L Pietrangelo, S Boncompagni - Journal of Muscle Research …, 2021 - Springer
In the last decades the term Store-operated Ca 2+ entry (SOCE) has been used in the
scientific literature to describe an ubiquitous cellular mechanism that allows recovery of …
scientific literature to describe an ubiquitous cellular mechanism that allows recovery of …
Pre-and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'
The properties of neuromuscular junctions (NMJs) were studied in motor-point biopsy
samples from eight patients with congenital myasthenic syndromes affecting primarily …
samples from eight patients with congenital myasthenic syndromes affecting primarily …