Results 41 to 50 of about 10,687,918 (152)

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

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve [PDF]

Human Molecular Genetics, 2003
Charcot-Marie-Tooth disease type 4B1, CMT4B1, is a severe, autosomal-recessive, demyelinating peripheral neuropathy, due to mutations in the Myotubularin-related 2 gene, MTMR2. MTMR2 is widely expressed and encodes a phosphatase whose substrates include phosphoinositides.
Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RHM, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A   +12 more
openaire   +4 more sources

Characterisation of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity

, 2001
Inositol lipids play key roles in many fundamental cellular processes that include growth, cell survival, motility, and membrane trafficking. Recent studies on the PTEN and Myotubularin proteins have underscored the importance of inositol lipid 3 ...
Raposo, G, Walker, DM, Urbe, S, Clague, MJ, Dove, Stephen, Tenza, D   +5 more
core   +2 more sources

R405W Desmin Knock‐In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Mutations in the desmin gene cause skeletal myopathies and cardiomyopathies. The objective of this study was to elucidate the molecular pathology induced by the expression of R405W mutant desmin in murine skeletal muscle. Methods A comprehensive characterization of the skeletal muscle pathology in hetero‐ and homozygous R405W desmin
Sabrina Batonnet‐Pichon, Florence Delort, Alain Lilienbaum, Carolin Berwanger, Dorothea Schultheis, Ursula Schlötzer‐Schrehardt, Andreas Schmidt, Steffen Uebe, Yosra Baiche, Tom J. Eisenack, Débora Broch Trentini, Markus Mallek, Leonid Mill, Ana Ferreiro, Bettina Eberhard, Thomas Lücke, Markus Krüger, Christian Thiel, Rolf Schröder, Christoph S. Clemen   +19 more
wiley   +1 more source

Divergent Functions of the Myotubularin (MTM) Homologs AtMTM1 and AtMTM2 in \u3ci\u3eArabidopsis thaliana\u3c/i\u3e: Evolution of the Plant MTM Family [PDF]

, 2012
Myotubularin and myotubularin-related proteins are evolutionarily conserved in eukaryotes. Defects in their function result in muscular dystrophy, neuronal diseases, and leukemia in humans.
Divecha, Nullin, Avramova, Zoya, Jones, David R., Ndamukong, Ivan, Zhao, Yang, Ding, Yong, Xia, Yuannan, Riethoven, Jean-Jack   +7 more
core  

Different Pattern in Circulating MicroRNA‐22‐3p Levels Between Patients With Primary Versus Secondary Sarcopenia

Aging Cell, Volume 24, Issue 12, December 2025.
Serum miR‐22 levels are significantly associated with both primary (age‐related) and secondary (heart failure‐related) sarcopenia and independently predict its presence. Circulating miR‐22 may be a novel, non‐invasive epigenetic biomarker for detecting sarcopenia in aging and heart failure.
Mirela Vatic, Anselm A. Derda, Tania Garfias‐Veitl, Ryosuke Sato, Goran Lončar, Guglielmo Fibbi, Wolfram Doehner, Christian Bär, Francesco Landi, Riccardo Calvani, Matteo Tosato, Roberto Bernabei, Emanuele Marzetti, Robert Kob, Cornel Sieber, Stefan D. Anker, Thomas Thum, Stephan von Haehling   +17 more
wiley   +1 more source

Myotubularin-MTMR12 interactions in XLMTM.

, 2013
(A) Schematic diagram of different domains of myotubularin protein displaying representative pathogenic mutations found in XLMTM patients or an artificial inactivating mutation C375S* (GRAM, N terminal lipid or protein interacting domain; RID, putative ...
Karim Hnia (127778), Stacey R. Gundry (424531), Laura L. Smith (424530), Ethan A. Talbot (424535), Nathaniel E. Goldman (424536), Vandana A. Gupta (142475), Jocelyn Laporte (127789), Junko Shimazu (424533), Leonela Amoasii (127770), Jessica R. Bass (424534), Alan H. Beggs (142493), Jessica E. McIntire (424532)   +11 more
core   +1 more source

Complement factor H-related proteins CFHR2 and CFHR5 represent novel ligands for the infection-associated CRASP proteins of Borrelia burgdorferi [PDF]

, 2010
Background: One virulence property of Borrelia burgdorferi is its resistance to innate immunity, in particular to complement-mediated killing. Serum-resistant B.
Teresia Hallström, Hallström Teresia, Christine Skerka, Beckhaus Tobias, Skerka, Christine, Karas Michael, Hannes Eberhardt, Michael Karas, Barbara Uzonyi, Corinna Siegel, Kraiczy Peter, Eberhardt, Hannes, Uzonyi Barbara, Zipfel, Peter F., Beckhaus, Tobias, Peter Kraiczy, Karas, Michael (Prof. Dr.), Stevenson, Brian, Peter F Zipfel, Stevenson Brian, Uzonyi, Barbara, Brian Stevenson, Peter F. Zipfel, Siegel, Corinna, Hallström, Teresia, Kraiczy, Peter, Tobias Beckhaus, Eberhardt Hannes, Skerka Christine, Wallich, Reinhard, Zipfel Peter F., Reinhard Wallich, Siegel Corinna, Karas, Michael, Wallich Reinhard   +34 more
core   +2 more sources

Characterization of the myotubularin dual specificity phosphatase gene family, from yeast to human

, 1998
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disorder due to mutations in the MTM1 gene. The corresponding protein, myotubularin, contains the consensus active site of tyrosine phosphatases (PTP) but otherwise shows no homology to ...
Blondeau, F., Tentler, B.,, Kretz, C., Mandel, J. L., Dahl, Niklas,, Buj-Bello, A., Laporte, J.   +6 more
core   +4 more sources

A novel transgenic reporter of extracellular acidification in zebrafish elucidates skeletal muscle T‐tubule pH regulation

Developmental Dynamics, Volume 254, Issue 9, Page 1068-1079, September 2025.
Abstract Disruption of extracellular pH and proton‐sensing can profoundly impact cellular and protein functions, leading to developmental defects. To visualize changes in extracellular pH in the developing embryo, we generated a zebrafish transgenic line that ubiquitously expresses the ratiometric pH‐sensitive fluorescent protein pHluorin2, tethered to
Leif R. Neitzel, Maya Silver, Aaron H. Wasserman, Samantha Rea, Charles C. Hong, Charles H. Williams   +5 more
wiley   +1 more source