Results 41 to 50 of about 26,653 (213)

Protocol for Reconstituting Adaptor‐Mediated Activation of Full‐Length Kinesin‐1

Cytoskeleton, EarlyView.
ABSTRACT Kinesin‐1 is a member of the kinesin superfamily that plays an essential role in intracellular cargo transport. In the absence of cargo, Kinesin‐1 exhibits low motor activity due to autoinhibition. Multiple studies have demonstrated that adaptor proteins, which link cargos to Kinesin‐1, can activate Kinesin‐1 by releasing the autoinhibition ...
Haruka Masumoto, Kyoko Chiba
wiley   +1 more source

Ascorbic Acid in Charcot-Marie-Tooth Disease

Pediatric Neurology Briefs, 2009
Ascorbic acid has been shown to reduce demyelination and improve muscle function in a transgenic mouse model of Charcot-Marie-Tooth disease (CMT1A).
J Gordon Millichap
doaj   +1 more source

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin [PDF]

, 2017
To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot-Marie-Tooth neuropathy subtype in a family excluded for mutations in the common Charcot-Marie-Tooth genes, we used array-based sequence capture to ...
Auer-Grumbach, Michaela, Auer-Grumbach, Piet, Budka, Herbert, El Shabrawi-Caelen, Laila, Fink-Puches, Regina, Fröhlich, Eleonore, Guelly, Christian, Haas, Anton, Janecke, Andreas R., Metze, Dieter, Papić, Lea, Pieber, Thomas R., Schabhüttl, Maria, Senderek, Jan, Trajanoski, Slave, Weger, Martin, Windpassinger, Christian   +16 more
core  

Intermediate filaments link glutamate–aspartate transporter deficiency to cochlear synaptopathy

The FEBS Journal, EarlyView.
In a healthy ear, GLAST transporters in supporting cells clear excess glutamate to protect auditory connections. When GLAST is missing, glutamate accumulates and leads to the destruction of structural scaffolding within the postsynaptic nerve endings. This internal collapse causes a loss of synapses that are essential for hearing, ultimately resulting ...
Paul Emmerich Krumpoeck, Lukas David Landegger   +1 more
wiley   +1 more source

Expression of mitofusin 2R94Q in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A [PDF]

, 2017
Charcot-Marie-Tooth disease type 2A is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene. Mitofusin 2 encodes a mitochondrial outer membrane protein that participates in mitochondrial fusion in ...
Arnaud, Estelle, Cartoni, Romain, Chrast, Roman, Courvoisier, Delphine S., Martinou, Jean-Claude, Médard, Jean-Jacques, Poirot, Olivier   +6 more
core  

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) [PDF]

, 2017
OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1).
Burns, J, Day, J, Herrmann, DN, Horvath, R, Inherited Neuropathies Consortium—Rare Diseases Clinical Researc,, Laura, M, Lewis, RA, Li, J, Panosyan, FB, Pareyson, D, Pisciotta, C, Piscosquito, G, Reilly, MM, Rossor, AM, Scherer, SS, Shy, ME, Yum, SW   +16 more
core   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot–Marie–Tooth disease 4B vocal cord paralysis: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting.
Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh   +5 more
doaj   +1 more source

Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model [PDF]

, 2019
Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system.
A.K.M.G. Muhammad, Antonietta Franco, Bergamin, Bin Lu, Burté, Cartoni, Cathleen M. Lutz, Chung, El Fissi, Gerald W. Dorn, Guyenet, Jesse Landeros, Lee, Michael Vazquez, Ritchie Ho, Robert H. Baloh, Rouzier, Santel, Santel, Shaomei Wang, Sharon Carmona, Shaughn Bell, Verhoeven, Yueqin Zhou   +23 more
core   +2 more sources

Biallelic Nonsense Variants in NEFL May Cause a Non‐Length‐Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies

Journal of the Peripheral Nervous System, Volume 31, Issue 2, June 2026.
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
Marcus Vinícius Vieira da Silva Gomes, Pedro José Tomaselli, Wilson Marques Jr   +2 more
wiley   +1 more source