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2021 2
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Endosomal lipid signaling reshapes the endoplasmic reticulum to control mitochondrial function.
Jang W, Puchkov D, Samsó P, Liang Y, Nadler-Holly M, Sigrist SJ, Kintscher U, Liu F, Mamchaoui K, Mouly V, Haucke V. Jang W, et al. Science. 2022 Dec 16;378(6625):eabq5209. doi: 10.1126/science.abq5209. Epub 2022 Dec 16. Science. 2022. PMID: 36520888
We show that endosomal signaling lipid turnover by MTM1, a phosphatidylinositol 3-phosphate [PI(3)P] 3-phosphatase mutated in X-linked centronuclear myopathy in humans, controls mitochondrial morphology and function by reshaping the endoplasmic reticulum (ER). Starvation-i …
We show that endosomal signaling lipid turnover by MTM1, a phosphatidylinositol 3-phosphate [PI(3)P] 3-phosphatase mutated in X-linke …
MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.
Giraud Q, Spiegelhalter C, Messaddeq N, Laporte J. Giraud Q, et al. Brain. 2023 Oct 3;146(10):4158-4173. doi: 10.1093/brain/awad251. Brain. 2023. PMID: 37490306 Free PMC article.
Here, to validate a novel therapeutic strategy for BIN1- and DNM2-CNM, we evaluated adeno-associated virus-mediated MTM1 (AAV-MTM1 ) overexpression in relevant mouse models. Early systemic MTM1 overexpression prevented the development of the CNM pathology in …
Here, to validate a novel therapeutic strategy for BIN1- and DNM2-CNM, we evaluated adeno-associated virus-mediated MTM1 (AAV-MTM1 …
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H. Deneubourg C, et al. Autophagy. 2022 Mar;18(3):496-517. doi: 10.1080/15548627.2021.1943177. Epub 2021 Aug 19. Autophagy. 2022. PMID: 34130600 Free PMC article.
The close connection with adult-onset neurodegenerative disorders highlights the relevance of research into rare early-onset neurodevelopmental conditions for much more common, age-related human diseases.Abbreviations: AC: anterior commissure; AD: Alzheimer disease; ALR: autophag …
The close connection with adult-onset neurodegenerative disorders highlights the relevance of research into rare early-onset neurodevelopmen …
BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes.
Perdreau-Dahl H, Lipsett DB, Frisk M, Kermani F, Carlson CR, Brech A, Shen X, Bergan-Dahl A, Hou Y, Tuomainen T, Tavi P, Jones PP, Lunde M, Wasserstrom JA, Laporte J, Ullrich ND, Christensen G, Morth JP, Louch WE. Perdreau-Dahl H, et al. Circ Res. 2023 May 26;132(11):e188-e205. doi: 10.1161/CIRCRESAHA.122.321732. Epub 2023 May 4. Circ Res. 2023. PMID: 37139790 Free article.
BIN1 upregulation during development was paralleled by increasing expression of MTM1. Despite no direct binding between MTM1 and murine cardiac BIN1 isoforms, which lack exon 11, high MTM1 levels were necessary for BIN1-induced tubulation, indicating a centra …
BIN1 upregulation during development was paralleled by increasing expression of MTM1. Despite no direct binding between MTM1 a …
A review of major causative genes in congenital myopathies.
Ogasawara M, Nishino I. Ogasawara M, et al. J Hum Genet. 2023 Mar;68(3):215-225. doi: 10.1038/s10038-022-01045-w. Epub 2022 Jun 7. J Hum Genet. 2023. PMID: 35668205 Review.
This review discusses the major causative genes (NEB, ACTA1, ADSSL1, RYR1, SELENON, MTM1, DNM2, and TPM3) for each subtype of congenital myopathies and the relevant latest findings....
This review discusses the major causative genes (NEB, ACTA1, ADSSL1, RYR1, SELENON, MTM1, DNM2, and TPM3) for each subtype of congeni …
Interplay between myotubularins and Ca2+ homeostasis.
Dai N, Groenendyk J, Michalak M. Dai N, et al. Biochim Biophys Acta Mol Cell Res. 2024 Jun;1871(5):119739. doi: 10.1016/j.bbamcr.2024.119739. Epub 2024 May 6. Biochim Biophys Acta Mol Cell Res. 2024. PMID: 38710289 Free article. Review.
The myotubularin family, encompassing myotubularin 1 (MTM1) and 14 myotubularin-related proteins (MTMRs), represents a conserved group of phosphatases featuring a protein tyrosine phosphatase domain. ...Here we explore the evolving roles of MTM1/MTMRs, unveiling the …
The myotubularin family, encompassing myotubularin 1 (MTM1) and 14 myotubularin-related proteins (MTMRs), represents a conserved grou …
Dietary pro-oxidant therapy by a vitamin K precursor targets PI 3-kinase VPS34 function.
Swamynathan MM, Kuang S, Watrud KE, Doherty MR, Gineste C, Mathew G, Gong GQ, Cox H, Cheng E, Reiss D, Kendall J, Ghosh D, Reczek CR, Zhao X, Herzka T, Špokaitė S, Dessus AN, Kim ST, Klingbeil O, Liu J, Nowak DG, Alsudani H, Wee TL, Park Y, Minicozzi F, Rivera K, Almeida AS, Chang K, Chakrabarty RP, Wilkinson JE, Gimotty PA, Diermeier SD, Egeblad M, Vakoc CR, Locasale JW, Chandel NS, Janowitz T, Hicks JB, Wigler M, Pappin DJ, Williams RL, Cifani P, Tuveson DA, Laporte J, Trotman LC. Swamynathan MM, et al. Science. 2024 Oct 25;386(6720):eadk9167. doi: 10.1126/science.adk9167. Epub 2024 Oct 25. Science. 2024. PMID: 39446948
Testing MSB in a myotubular myopathy model that is driven by loss of MTM1-the phosphatase antagonist of VPS34-we show that dietary MSB improved muscle histology and function and extended life span. ...
Testing MSB in a myotubular myopathy model that is driven by loss of MTM1-the phosphatase antagonist of VPS34-we show that dietary MS …
Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy.
Karolczak S, Deshwar AR, Aristegui E, Kamath BM, Lawlor MW, Andreoletti G, Volpatti J, Ellis JL, Yin C, Dowling JJ. Karolczak S, et al. J Clin Invest. 2023 Sep 15;133(18):e166275. doi: 10.1172/JCI166275. J Clin Invest. 2023. PMID: 37490339 Free PMC article.
In an attempt to understand whether loss of MTM1 itself is associated with liver pathology, we have characterized what we believe to be a novel liver phenotype in a zebrafish model of this disease. ...Using a reporter-tagged Mtm1 zebrafish line, we established local …
In an attempt to understand whether loss of MTM1 itself is associated with liver pathology, we have characterized what we believe to …
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
BACKGROUND: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by mutations in MTM1. No therapies are approved for this disease. We aimed to assess the safety and efficacy of resamirigene bilparvove …
BACKGROUND: X-linked myotubular myopathy is a rare, life-threatening, congenital muscle disease observed mostly in males, which is caused by …
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Zhang H, Chang M, Chen D, Yang J, Zhang Y, Sun J, Yao X, Sun H, Gu X, Li M, Shen Y, Dai B. Zhang H, et al. J Transl Med. 2024 Sep 2;22(1):815. doi: 10.1186/s12967-024-05626-5. J Transl Med. 2024. PMID: 39223631 Free PMC article. Review.
Some adeno-associated viruses show promising prospects in the treatment of MTM1 and BIN1-associated myopathies; however, such gene-level therapeutic interventions target only specific mutation types and are not generalizable. ...Here, we outline the pathogenic mechanisms b …
Some adeno-associated viruses show promising prospects in the treatment of MTM1 and BIN1-associated myopathies; however, such gene-le …
36 results