GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
Case Reports in Neurology, 2021 X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene.
Sabine Kovale +7 more
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Emerging functions of mammalian mitochondrial fusion and fission [PDF]
, 2005 Mitochondria provide a myriad of services to the cell, including energy production, calcium buffering and regulation of apoptosis. How these diverse functions are coordinated among the hundreds of mitochondria in a given cell is largely unknown, but is ...
Chan, David C., Chen, Hsiuchen
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Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (
BMC Medical Genetics, 2006 Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
Haas Gerhard +6 more
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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
Case Reports in Medicine, 2022 This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical ...
Nivedita U. Jerath
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Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
, 2009 Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander +42 more
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Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]
, 2007 Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
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Dynamin 2 in Charcot-Marie-Tooth Disease [PDF]
, 2012 Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton.
Takei, Kohji, Tanabe, Kenji
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Sbf/MTMR13 coordinates PI(3)P and Rab21 regulation in endocytic control of cellular remodeling. [PDF]
, 2012 Cells rely on the coordinated regulation of lipid phosphoinositides and Rab GTPases to define membrane compartment fates along distinct trafficking routes.
Cox, Sarah +4 more
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Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
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From the cell membrane to the nucleus: unearthing transport mechanisms for Dynein [PDF]
, 2012 Mutations in the motor protein cytoplasmic dynein have been found to cause Charcot-Marie-Tooth disease, spinal muscular atrophy, and severe intellectual disabilities in humans. In mouse models, neurodegeneration is observed.
A. Friedman +53 more
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