Results 41 to 50 of about 49,167 (262)

Mitofusins and OPA1 Mediate Sequential Steps in Mitochondrial Membrane Fusion [PDF]

, 2009
Mitochondrial fusion requires the coordinated fusion of the outer and inner membranes. Three large GTPases—OPA1 and the mitofusins Mfn1 and Mfn2—are essential for the fusion of mammalian mitochondria.
David C. Chan, J. Michael Mccaffery, Janet M. Shaw, Mariam Ghochani, Terrence G. Frey, Zhiyin Song   +5 more
core   +2 more sources

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +1 more source

Charcot-Marie-Tooth disease and related disorders: an evolving landscape.

Current Opinion in Neurology, 2019
PURPOSE OF REVIEW Charcot-Marie-Tooth (CMT) disease and related disorders are the commonest group of inherited neuromuscular diseases and represent a heterogeneous group of disorders.
M. Laurá, M. Pipis, A. Rossor, M. Reilly   +3 more
semanticscholar   +1 more source

MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

Human Molecular Genetics, 2019
Charcot–Marie–Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2).
D. Larrea, M. Pera, A. Gonnelli, Rubén Quintana-Cabrera, H. Akman, C. Guardia-Laguarta, K. Velasco, E. Area-Gómez, Federica Dal Bello, Diego De Stefani, R. Horvath, M. Shy, E. Schon, M. Giacomello   +13 more
semanticscholar   +1 more source

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
doaj   +1 more source

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease [PDF]

, 2017
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL).
Bettencourt, C, Blake, JC, Brandner, S, Gonzalez, MA, Hanna, MG, Horga, A, Houlden, H, Jaunmuktane, Z, Jerath, NU, Laurà, M, Liu, Y-T, Lunn, MP, Manji, H, Poh, R, Polke, JM, Reilly, MM, Shy, M, Wiethoff, S, Züchner, S   +18 more
core   +1 more source

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

Communications Biology, 2022
GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf, Alireza Pouya, Sara Bitar, Annika Pfeiffer, Diones Bueno, Liliana Rojas-Charry, Sabine Arndt, David Gomez-Zepeda, Stefan Tenzer, Federica Dal Bello, Caterina Vianello, Sandra Ritz, Jonas Schwirz, Kristina Dobrindt, Michael Peitz, Eva-Maria Hanschmann, Pauline Mencke, Ibrahim Boussaad, Marion Silies, Oliver Brüstle, Marta Giacomello, Rejko Krüger, Axel Methner   +22 more
doaj   +1 more source

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy

Communications Biology, 2022
The Rab7V162M mutation associated with Charcot Marie Tooth 2B peripheral neuropathy causes mitochondrial fragmentation in patient-derived fibroblasts and primary cultured dorsal root ganglion sensory neurons from E18 mouse embryos.
Yingli Gu, Flora Guerra, Mingzheng Hu, Alexander Pope, Kijung Sung, Wanlin Yang, Simone Jetha, Thomas A. Shoff, Tessanya Gunatilake, Owen Dahlkamp, Linda Zhixia Shi, Fiore Manganelli, Maria Nolano, Yue Zhou, Jianqing Ding, Cecilia Bucci, Chengbiao Wu   +16 more
doaj   +1 more source

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination [PDF]

, 2017
Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy.
Bock, Thomas, Kuner, Rohini, Meijer, Dies, Miehe, Michaela, Niemann, Axel, Oertli, Carole I., Sidiropoulos, Páris N. M., Suter, Ueli, Tinelli, Elisa, Wollscheid, Bernd   +9 more
core  

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