90. J Biol Chem. 2021 Nov 15;101412. doi: 10.1016/j.jbc.2021.101412. Online ahead of print.
Cardiac ryanodine receptor N-terminal region biosensors identify novel inhibitors via FRET-based high-throughput screening
Jingyan Zhang 1, Daniel P Singh 2, Christopher Y Ko 3, Roman Nikolaienko 4, Siobhan M Wong King Yuen 5, Jacob A Schwarz 1, Levy M Treinen 1, Ching-Chieh Tung 5, Kaja Rožman 6, Bengt Svensson 1, Courtney C Aldrich 6, Aleksey V Zima 4, David D Thomas 1, Donald M Bers 3, Bradley S Launikonis 2, Filip Van Petegem 5, Razvan L Cornea 7
• 1Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA.
• 2School of Biomedical Sciences, The University of Queensland, Brisbane, QLD 4072, Australia.
• 3Department of Pharmacology, University of California, Davis, CA 95616, USA.
• 4Department of Cell and Molecular Physiology, Loyola University Chicago, IL 60660, USA.
• 5Department of Biochemistry and Molecular Biology, Life Sciences Institute, University of British Columbia,V6T 1Z3 Vancouver, BC, Canada.
• 6Department of Medicinal Chemistry, University of Minnesota, Minneapolis, MN, 55455, USA.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)
AFM-Téléthon (Service Documentation) – 23/11/2021 32/71
• 7Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: corne002@umn.edu.
• PMID: 34793835
• DOI: 10.1016/j.jbc.2021.101412
Keywords: FRET; N-terminal region; Ryanodine receptor; fluorescence lifetime; high-throughput screening; myopathy.
91. Intern Med. 2021 Nov 13. doi: 10.2169/internalmedicine.8314-21. Online ahead of print.
Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure Mizuki Ito 1 2, Sayuri Shima 1, Nagao Ryunosuke 1, Shoko Nakano 1, Konoka Esaka 1, Akihiro Ueda 1, Shingo Maeda 3, Ryoma Moriya 3, Masashi Kondo 3, Kazuyoshi Imaizumi 3, Seiya Noda 4 5, Masahisa Katsuno 4, Ichizo Nishino 6, Hirohisa Watanabe 1
• 1Department of Neurology, Fujita Health University, School of Medicine, Japan.
• 2Department of Neurology, Fujita Health University Bantane Hospital, Japan.
• 3Department of Respiratory Medicine, Fujita Health University, School of Medicine, Japan.
• 4Department of Neurology, Nagoya University Graduate School of Medicine, Japan.
• 5Department of Neurology, National Hospital Organization Suzuka Hospital, Japan.
• 6Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.
• PMID: 34776486
• DOI: 10.2169/internalmedicine.8314-21
Keywords: Nemaline myopathy; nebulin; respiratory muscle paralysis; right heart failure; type 2 respiratory failure.
Review
92. Int J Mol Sci. 2021 Oct 21;22(21):11377. doi: 10.3390/ijms222111377.
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances
Raquel Gómez-Oca 1 2 3 4 5, Belinda S Cowling 5, Jocelyn Laporte 1 2 3 4
• 1Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France.
• 2Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67400 Illkirch, France.
• 3Centre National de la Recherche Scientifique (CNRS), UMR7104, 67400 Illkirch, France.
• 4Strasbourg University, 67081 Strasbourg, France.
• 5Dynacure, 67400 Illkirch, France.
• PMID: 34768808
• PMCID: PMC8583656
• DOI: 10.3390/ijms222111377
Keywords: amphiphysin; autophagy; centronuclear myopathy; dynamin; membrane trafficking; myotubular myopathy;
myotubularin; ryanodine receptor; satellite cell; triads.
93. J Gen Physiol. 2022 Sep 5;154(9):e2021ecc46. doi: 10.1085/jgp.2021ecc46. Epub 2021 Nov 12.
RYR1-related myopathies: Expanding the spectrum of morphological presentation Vincenzo Sorrentino 1
• 1Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy.
• PMID: 34767018
• DOI: 10.1085/jgp.2021ecc46
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)
AFM-Téléthon (Service Documentation) – 23/11/2021 33/71
94. J Gen Physiol. 2022 Sep 5;154(9):e2021ecc44. doi: 10.1085/jgp.2021ecc44. Epub 2021 Nov 12.
Cryo-EM reveals local and global structural rearrangements in RYR mutants Kavita A Iyer 1, Yifan Hu 1, Thomas Klose 2, Takashi Murayama 3, Montserrat Samsó 1
• 1Department of Physiology and Biophysics, Virginia Commonwealth University, Richmond, VA.
• 2Purdue Cryo-EM Facility, College of Science, Purdue University, West Lafayette, IN.
• 3Department of Pharmacology, Juntendo University, Tokyo, Japan.
• PMID: 34767016
• DOI: 10.1085/jgp.2021ecc44
95. J Gen Physiol. 2022 Sep 5;154(9):e2021ecc26. doi: 10.1085/jgp.2021ecc26. Epub 2021 Nov 12.
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations
Alexis Ruizl 1, Jan Eckhardt 1, Susan Treves 1 2, Francesco Zorzato 1 2
• 1Neuromuscular Research group section Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
• 2Department of Life Science and Biotechnology, University of Ferrara, Ferrara, Italy.
• PMID: 34766998
• DOI: 10.1085/jgp.2021ecc26
96. J Gen Physiol. 2022 Sep 5;154(9):e2021ecc17. doi: 10.1085/jgp.2021ecc17. Epub 2021 Nov 12.
Structural basis for diamide modulation of ryanodine receptor
Ruifang Ma 1, Omid Haji-Ghassemi 2, Dan Ma 1, Heng Jiang 1, Lianyun Lin 1, Tong Xu 1, Takashi Murayama 3, Bernard Moussian 4, Filip Van Petegem 2, Zhiguang Yuchi 1
• 1School of Pharmaceutical Science and Technology, Tianjin University, Tianjin, China.
• 2Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada.
• 3Department of Cellular and Molecular Pharmacology, Juntendo University, Tokyo, Japan.
• 4Interfaculty Institute of Cell Biology, University of Tübingen, Tübingen, Germany.
• PMID: 34766989
• DOI: 10.1085/jgp.2021ecc17
97. J Neurol Sci. 2021 Nov 3;431:120047. doi: 10.1016/j.jns.2021.120047. Online ahead of print.
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
Eleonora Mauri 1, Daniela Piga 1, Serena Pagliarani 2, Francesca Magri 1, Arianna Manini 2, Monica Sciacco 3, Michela Ripolone 3, Laura Napoli 3, Linda Borellini 4, Claudia Cinnante 5, Denise Cassandrini 6, Stefania Corti 7, Nereo
Bresolin 7, Giacomo Pietro Comi 8, Alessandra Govoni 9
• 1IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
• 2Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
• 3IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
• 4IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuropathophysiology Unit, Milan, Italy.
• 5IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit Milan, Italy.
• 6Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
• 7IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy.
• 8Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy; IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Milan, Italy.
• 9IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy. Electronic address:
alessandra.govoni@policlinico.mi.it.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-11-2 du 5 au 18 novembre 2021 (November 5 to 18, 2021)
AFM-Téléthon (Service Documentation) – 23/11/2021 34/71
• PMID: 34763287
• DOI: 10.1016/j.jns.2021.120047
Keywords: CACNA1S; Congenital myopathy; Dihydropyridine receptor; Z-disc.
Case Reports
98. Neuromuscul Disord. 2021 Sep 21;S0960-8966(21)00651-9. Online ahead of print.
A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation
Juliana Gurgel-Giannetti 1, Lucas Santos Souza 2, Guilherme Ferraz Messina de Pádua Andrade 3, Maria de Fátima Derlene 4, Zilda Maria Alves Meira 4, Beatriz Vilela Morais Azevedo 5, Wilson Campos Jr 6, Sabrina Stephanie Lana Diniz 5, Marina Belisario Carvalhais 5, Juliana Rodrigues Soares Oliveira 3, Livia Uliana 5, Renato Bráulio 3, Paulo Henrique Nogueira Costa 3, Geraldo Brasileiro Filho 7, Mariz Vainzof 2
• 1Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil. Electronic address:
gurgelju@yahoo.com.br.
• 2Department of Genetics and Evolutionary Biology, Human Genome and Stem Cell Research Center from University of São Paulo, Brazil.
• 3Department of Clinics, Service of cardiology and cardiovascular Surgery from Federal University of Minas Gerais, Brazil.
• 4Department of Pediatrics, Service of Pediatric Cardiology from Federal University of Minas Gerais, Brazil.
• 5Department of Pediatrics, Service of Neuropediatrics from Federal University of Minas Gerais, Brazil Rua Herculano de Freitas, 905 apt 1302 Bairro Gutierrez, Belo Horizonte, Brazil.
• 6Department of Radiology, Hospital Mater Dei Contorno, Belo Horizonte, Brazil.
• 7Department of Pathology, Federal University of Minas Gerais, Brazil.
• PMID: 34742623
• DOI: 10.1016/j.nmd.2021.09.005
Keywords: Congenital fiber type disproportion; Congenital myopathy; Dilated cardiomyopathy; Fiber size disproportion;
Muscle biopsy; Speg.
Review
99. Neuromuscul Disord. 2021 Oct;31(10):1004-1012. doi: 10.1016/j.nmd.2021.08.003.
X-linked myotubular myopathy Michael W Lawlor 1, James J Dowling 2
• 1Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, WI, USA.
• 2Division of Neurology and Program for Genetics and Genome Biology, Hospital for Sick Children, 555 University Ave., Toronto, ON M5G 1X8, Canada; Departments of Paediatrics and Molecular Genetics, University of Toronto, Canada. Electronic address: James.dowling@sickkids.ca.
• PMID: 34736623
• DOI: 10.1016/j.nmd.2021.08.003