Review
64. Neurotherapeutics. 2021 Nov 8. doi: 10.1007/s13311-021-01145-z. Online ahead of print.
Mechanisms and Treatments in Demyelinating CMT Vera Fridman 1, Mario A Saporta 2
• 1Department of Neurology, University of Colorado Anschutz Medical Campus, 12631 E 17th Avenue, Mailstop B185, Room 5113C, Aurora, CO, 80045, USA. Vera.fridman@cuanschutz.edu.
• 2Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.
• PMID: 34750751
• DOI: 10.1007/s13311-021-01145-z
Keywords: Biological mechanisms; Charcot-Marie-Tooth disease; Clinical trials; Demyelinating neuropathy; Therapeutic development; Treatment targets.
65. Am J Transl Res. 2021 Oct 15;13(10):11501-11512. eCollection 2021.
Metabolic and biophysical study of the MFN2 Ile213Thr mutant causing Hereditary Motor and Sensory Neuropathy (HMSN)
Kai Yang 1, Hua-Ying Hu 2, Jing Zhang 3, You-Sheng Yan 1, Wen-Qi Chen 3, Yan Liu 1, Yong-Qing Sun 1, Qing Guo 3, Cheng-Hong Yin 1
• 1Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China.
• 2Jiaen Genetics Laboratory, Beijing Jiaen Hospital Beijing 100191, China.
• 3Prenatal Diagnosis Center,Shijiazhuang Obstetrics and Gynecology Hospital Shijiazhuang, Hebei, China.
• PMID: 34786076
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• PMCID: PMC8581889
Keywords: CMT2A; MFN2; hereditary neuropathy; metabonomics; molecular dynamic simulation; whole-exome sequencing.
66. Int J Mol Sci. 2021 Nov 6;22(21):12026. doi: 10.3390/ijms222112026.
Stem Cell Therapy Enhances Motor Activity of Triceps Surae Muscle in Mice with Hereditary Peripheral Neuropathy
Iryna Govbakh 1, Vitalii Kyryk 2 3, Alina Ustymenko 2 3, Volodymyr Rubtsov 4, Oleg Tsupykov 2 5, Nataliya V Bulgakova 6, Danylo O Zavodovskiy 6, Inna Sokolowska 7, Andriy Maznychenko 6 7
• 1Department of General Practice-Family Medicine, Kharkiv Medical Academy of Postgraduate Education, 61000 Kharkiv, Ukraine.
• 2Cell and Tissue Technologies Department, State Institute of Genetic and Regenerative Medicine NAMS of Ukraine, 04114 Kyiv, Ukraine.
• 3Laboratory of Pathophysiology and Immunology, D. F. Chebotarev State Institute of Gerontology NAMS of Ukraine, 04114 Kyiv, Ukraine.
• 4Department of Cytology, Histology and Reproductive Medicine, Educational and Scientific Institute of Biology and Medicine, Taras Shevchenko National University of Kyiv, 03127 Kyiv, Ukraine.
• 5Department of Cytology, Bogomoletz Institute of Physiology NAS of Ukraine, 01024 Kyiv, Ukraine.
• 6Department of Movement Physiology, Bogomoletz Institute of Physiology NAS of Ukraine, 01024 Kyiv, Ukraine.
• 7Department of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, Poland.
• PMID: 34769453
• PMCID: PMC8584487
• DOI: 10.3390/ijms222112026
Keywords: electrical stimulation; hereditary peripheral neuropathy; mice; muscle contraction; stem cells.
67. Int J Mol Sci. 2021 Oct 26;22(21):11569. doi: 10.3390/ijms222111569.
Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A
Filippos Stavropoulos 1, Irene Sargiannidou 1, Louiza Potamiti 2, Alexia Kagiava 1, Mihalis I Panayiotidis 2, Ji Hyun Bae 3, Su Cheong Yeom 3, Jae Young Lee 4, Kleopas A Kleopa 1 5
• 1Neuroscience Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
• 2Department of Cancer Genetics, Therapeutics & Ultrastructural Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
• 3Graduate School of International Agricultural Technology and Institute of GreenBio Science and Technology, Seoul National University, Pyeongchang 25354, Korea.
• 4ToolGen Inc., Seoul 08501, Korea.
• 5Center for Neuromuscular Disorders and Center for Multiple Sclerosis and Related Disorders, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
• PMID: 34769001
• PMCID: PMC8584238
• DOI: 10.3390/ijms222111569
Keywords: Charcot-Marie-Tooth disease type 2A; knock-in mouse model; lipopolysaccharide; mitochondria; mitofusin-2;
neuroinflammation; peripheral neuropathy.
68. J Clin Med. 2021 Oct 26;10(21):4945. doi: 10.3390/jcm10214945.
Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis
Sungeun Hwang 1, Chang-Hyun Park 2, Regina Eun-Young Kim 3 4, Hyeon Jin Kim 2 5, Yun Seo Choi 6, Sol-Ah Kim 6, Jeong Hyun Yoo 7, Ki Wha Chung 8, Byung-Ok Choi 9 10 11, Hyang Woon Lee 1 2 6 12 13
• 1Departments of Neurology, Ewha Womans University Mokdong Hospital, Seoul 07985, Korea.
• 2Departments of Neurology, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07985, Korea.
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• 3Institute for Human Genomic Study, College of Medicine, Korea University, Ansan 15355, Korea.
• 4Department of Psychiatry, University of Iowa, Iowa City, IA 52242, USA.
• 5Department of Neurology, Korea University Ansan Hospital, Ansan 15355, Korea.
• 6Departments of Medical Science, Ewha Womans University School of Medicine and Ewha Medical Research Institute, Seoul 07804, Korea.
• 7Department of Radiology, College of Medicine, Ewha Womans University, Seoul 07985, Korea.
• 8Department of Biological Sciences, Kongju National University, Kongju 32588, Korea.
• 9Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
• 10Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences &
Technology, Sungkyunkwan University, Seoul 06351, Korea.
• 11Stem Cell & Regenerative Medicine Institute, Samsung Medical Center, Seoul 06351, Korea.
• 12Department of Computational Medicine, Ewha Womans University, Seoul 07985, Korea.
• 13Department of System Health Science & Engineering, Ewha Womans University, Seoul 03765, Korea.
• PMID: 34768465
• PMCID: PMC8584387
• DOI: 10.3390/jcm10214945
Keywords: Charcot–Marie–Tooth disease (CMT); ataxia; cerebellum; diffusion tensor imaging (DTI); volumetry; white matter.
69. BMC Neurol. 2021 Nov 10;21(1):441. doi: 10.1186/s12883-021-02473-5.
Fasciculation differences between ALS and non-ALS patients: an ultrasound study Jingwen Liu 1, Yi Li 1, Jingwen Niu 1, Lei Zhang 1, Jing Fan 1, Yuzhou Guan 1, Liying Cui 1, Mingsheng Liu 2
• 1Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
• 2Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. liumingsheng_pumch@163.com.
• PMID: 34758775
• PMCID: PMC8579676
• DOI: 10.1186/s12883-021-02473-5
Keywords: Amyotrophic lateral sclerosis; Diagnosis; Fasciculation; Peripheral neuropathy; Ultrasonography.
70. Cell Rep. 2021 Nov 9;37(6):109935. doi: 10.1016/j.celrep.2021.109935.
PMP2/FABP8 induces PI(4,5)P 2-dependent transbilayer reorganization of sphingomyelin in the plasma membrane
Mitsuhiro Abe 1, Asami Makino 2, Motohide Murate 3, Françoise Hullin-Matsuda 4, Masataka Yanagawa 5, Yasushi Sako 5, Toshihide Kobayashi 6
• 1Lipid Biology Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Cellular Informatics Laboratory, RIKEN, Wako, Saitama 351-0198, Japan. Electronic address: abemitsu@riken.jp.
• 2Lipid Biology Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Cellular Informatics Laboratory, RIKEN, Wako, Saitama 351-0198, Japan.
• 3Lipid Biology Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Cellular Informatics Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Laboratoire de Bioimagerie et Pathologies, UMR 7021 CNRS, Faculté de Pharmacie, Université de Strasbourg, 67401 Illkirch, France.
• 4Lipid Biology Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Université de Lyon, CarMeN Laboratory, INSERM U1060, INRAE U1397, Université Claude Bernard Lyon 1, 69495 Pierre-Benite, France.
• 5Cellular Informatics Laboratory, RIKEN, Wako, Saitama 351-0198, Japan.
• 6Lipid Biology Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Cellular Informatics Laboratory, RIKEN, Wako, Saitama 351-0198, Japan; Laboratoire de Bioimagerie et Pathologies, UMR 7021 CNRS, Faculté de Pharmacie, Université de Strasbourg, 67401 Illkirch, France. Electronic address: toshihide.kobayashi@unistra.fr.
• PMID: 34758297
• DOI: 10.1016/j.celrep.2021.109935
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Keywords: Charcot-Marie-Tooth disease; fatty-acid-binding protein; flip-flop; genetic screening; immunoelectron microscopy; lipid asymmetry; lipid domain; lipid imaging; membrane tubulation; super-resolution microscopy.
71. Brain Commun. 2021 Oct 23;3(4):fcab252. doi: 10.1093/braincomms/fcab252. eCollection 2021.
AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in Gars P278KY/+ mice Burcak Ozes 1, Kyle Moss 1, Morgan Myers 1, Alicia Ridgley 1, Lei Chen 1, Darren Murrey 1, Zarife Sahenk 1 2 3
• 1Department of Pediatrics, Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH 43205, USA.
• 2Department of Pediatrics and Neurology, Nationwide Children's Hospital and The Ohio State University, Columbus, OH 43205, USA.
• 3Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
• PMID: 34755111
• PMCID: PMC8568849
• DOI: 10.1093/braincomms/fcab252 Keywords: AAV; CMT2D; NT-3; gars.
Review
72. Foot Ankle Clin. 2021 Dec;26(4):829-849. doi: 10.1016/j.fcl.2021.07.009. Epub 2021 Oct 4.
Ilizarov Technique in Severe Pediatric Foot Disorders Alexander Kirienko 1, Emiliano Malagoli 2
• 1External Fixation Unit, Humanitas Clinical and Research Center IRCCS, Via Manzoni 56, Rozzano, Milan 20089, Italy.
• 2External Fixation Unit, Humanitas Clinical and Research Center IRCCS, Via Manzoni 56, Rozzano, Milan 20089, Italy. Electronic address: emiliano.malagoli@gmail.com.
• PMID: 34752240
• DOI: 10.1016/j.fcl.2021.07.009
Keywords: Arthrogryposis; Charcot-Marie-Tooth; Clubfoot; Deformity correction; External fixator; Foot disorders; Ilizarov.
73. Front Cell Neurosci. 2021 Oct 20;15:745940. doi: 10.3389/fncel.2021.745940. eCollection 2021.
Gain-of-Function Properties of a Dynamin 2 Mutant Implicated in Charcot-Marie-Tooth Disease Tara C Tassin 1, Barbara Barylko 1, Per Niklas Hedde 2 3, Yan Chen 4, Derk D Binns 1, Nicholas G James 2, Joachim D Mueller 4, David M Jameson 2, Ronald Taussig 1, Joseph P Albanesi 1
• 1Department of Pharmacology, U.T. Southwestern Medical Center, Dallas, TX, United States.
• 2Department of Cell and Molecular Biology, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, United States.
• 3Laboratory for Fluorescence Dynamics, University of California, Irvine, Irvine, CA, United States.
• 4School of Physics and Astronomy, University of Minnesota, Minneapolis, MN, United States.
• PMID: 34744632
• PMCID: PMC8563704
• DOI: 10.3389/fncel.2021.745940
Keywords: Charcot-Marie-Tooth disease; FLIM/FRET; centronuclear myopathy; dynamin; fluorescence fluctuation spectroscopy; tyrosine phosphorylation.