Results 71 to 80 of about 2,993 (188)
eLife, 2018 Piezo2 ion channels are critical determinants of the sense of light touch in vertebrates. Yet, their regulation is only incompletely understood. We recently identified myotubularin related protein-2 (Mtmr2), a phosphoinositide (PI) phosphatase, in the ...
Pratibha Narayanan +7 more
doaj +1 more source
Acta Neuropathologica Communications, 2020 X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre.
Jacob A. Ross +12 more
doaj +1 more source
Protein Science, Volume 35, Issue 5, May 2026.Abstract TBC (Tre2/Bub2/Cdc16) domain‐containing proteins constitute the widespread family of GTPase‐activating proteins (GAPs). They interact with the Rab superfamily of small GTPases, stimulate GTP hydrolysis, and regulate vesicle trafficking. TBC1D17, involved in Shiga toxin trafficking, autophagy and glucose metabolism regulation, constitutes an ...
Dominika Nielipińska +6 more
wiley +1 more source
, 2012 X-linked myotubular myopathy is a severe congenital myopathy caused by deficiency of the lipid phosphatase, myotubularin. Recent studies of human tissue and animal models have discovered structural and physiological abnormalities in myotubularin ...
Viola, M. G. +27 more
core +1 more source
Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell +8 more
wiley +1 more source
, 2012 Myotubularin/amphiphysin/dynamin protein functions in specific tissues, based on animal and cell models.
Belinda S. Cowling (127783) +3 more
core +1 more source
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Molecular Therapy: Methods & Clinical Development, 2020 Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking.
Catherine Koch +27 more
doaj +1 more source
A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging
Scientific Reports, 2022 Ageing is driven by the progressive, lifelong accumulation of cellular damage. Autophagy (cellular self-eating) functions as a major cell clearance mechanism to degrade such damages, and its capacity declines with age.
Tibor Kovács +19 more
doaj +1 more source
Molecular Ecology, Volume 35, Issue 1, January 2026.ABSTRACT Advances in sequencing and chromosome‐scale assembly have brought non‐model animals into focus, deepening our understanding of genome and chromosome evolution. Here, we present the waterbuck (Kobus ellipsiprymnus) as an emerging model antelope for studying population dynamics and chromosome evolution.
Corey Kirkland +12 more
wiley +1 more source
Novel Mutations in MTMR2 Gene Causes Charcot–Marie–Tooth Disease Type 4B1
International Journal of Genomics, Volume 2026, Issue 1, 2026.Background Charcot–Marie–Tooth (CMT) disease is the most prevalent and largest group of peripheral neuropathies, primarily affecting the peripheral nervous system. One of the rarest types of CMT is known as Charcot–Marie–Tooth disease, demyelinating, Type 4B1 (CMT4B1), with an autosomal recessive mode of inheritance.
Jun Yin, Santasree Banerjee, Lin Li
wiley +1 more source