Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Baxter, Rachel V.; Othmane, Kamel Ben; Rochelle, Julie M.; Stajich, Jason E.; Hulette, Christine M.; Dew-Knight, Susan; Hentati, Fayçal; Hamida, M. Ben; Bel, S.; Stenger, Judy E.; Gilbert, John R.; Pericak‐Vance, Margaret A.; Vance, Jeffery M.

doi:10.1038/ng796

Cited by 342 publications

(224 citation statements)

References 8 publications

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“…606598, http:// www.ncbi.nlm.nih.gov/omim). 42,43 GDAP1 is also a mitochondrial outer membrane protein with interaction domains that bind other mitochondrial membrane proteins FIS1 and DRP1 to regulate mitochondrial fission and their number and localization within axons. 44e46 GDAP1 mutationeassociated neuropathies are caused by a variety of different missense, nonsense, and splice site mutations, most of which appear to cause protein loss-of-function.…”

Section: Mitochondrial Dynamicsmentioning

confidence: 99%

Axon Transport and Neuropathy

Tourtellotte

2016

The American Journal of Pathology

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Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons. Here, I review evidence to indicate that many genetic neuropathies are caused by abnormalities in axon transport. Moreover, in hereditary sensory and autonomic neuropathies. There may be specific convergence on gene mutations that disrupt nerve growth factor signaling, upon which sympathetic and sensory neurons critically depend. (Am J Pathol 2016, 186: 489e499; http://dx

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Section: Mitochondrial Dynamicsmentioning

confidence: 99%

Axon Transport and Neuropathy

Tourtellotte

2016

The American Journal of Pathology

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“…For example, Charcot-Marie Tooth type 2a is caused by mutations in the MFN2 gene (Zuchner et al, 2004), and autosomal dominant optic atrophy (DOA) is due to alterations in the OPA1 gene (Alexander et al, 2000;Delettre et al, 2000). Mutations in other genes encoding proteins still poorly characterized but related to mitochondrial morphology may also cause neurodegenerative disorders (reviewed in Weber and Reichert, 2010), such as the GDAP1 involvement in Charcot-Marie Tooth type 4a (Baxter et al, 2002;Cuesta et al, 2002), or deletions of the LETM1gene, which have been associated with WolfHirschhorn Syndrome (Endele et al, 1999). It is worth noting that most studies regarding mitochondrial dynamics have been performed in cultured cells and data about human tissues are scarce.…”

Section: Alterations In Mitochondrial Dynamicsmentioning

confidence: 99%

Mitochondrial respiratory chain dysfunction: Implications in neurodegeneration

Morán

Moreno-Lastres

Marín-Buera

et al. 2012

Free Radical Biology and Medicine

136

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For decades mitochondria have been considered static round shaped organelles in charge of energy production. On the contrary, they are highly dynamic cellular components that undergo continuous cycles of fusion and fission influenced, for instance, by oxidative stress, cellular energy requirements, or the cell cycle state. New important functions beyond energy production have been attributed to mitochondria, such as the regulation of cell survival due to their role in the modulation of apoptosis, autophagy and aging. Primary mitochondrial diseases due to mutations in genes involved in these new mitochondrial functions, and the implication of mitochondrial dysfunction in multifactorial human pathologies like cancer, Alzheimer's and Parkinson's diseases, or diabetes has been demonstrated. Therefore, mitochondria are set at a central point of the equilibrium between health and disease, and a better understanding of mitochondrial functions will open new fields to explore the role of these mitochondrial pathways in human pathologies. The present review will dissect the relationships between the activity and assembly defects of the mitochondrial respiratory chain, oxidative damage, and alterations in mitochondrial dynamics, with special focus at their implications in neurodegeneration.

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“…A Doença de Charcot-Marie-Tooth tipo 4A é causada por mutações no gene que codifica o gangliosídeo associado à proteína 1 (GDAP1) no cromossomo 8q21, sendo a forma desmielinizante recessiva mais frequente [21][22][23][24] . GDAP1 é uma proteína da classe das transferases da glutationa, localizada na membrana mitocondrial externa.…”

Section: Subtipos De Charcot-marie-tooth Tipo 4 (Cmt4): Cmt4aunclassified

Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4

Gondim

Oliveira

Araújo³

et al. 2014

RNC

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RESUMOIntrodução. A Doença de Charcot-Marrie-Tooth (CMT) compreende um grupo geneticamente heterogêneo de neuropatias sensitivo--motoras hereditárias autossômicas dominantes, recessivas e ligadas ao cromossomo X. Objetivo. O objetivo do presente trabalho é realizar uma revisão de literatura a respeito dos principais tipos de CMT4 (variantes desmielinizantes autossômicas recessivas de CMT). Método. Foi realizada uma ampla revisão de literatura buscando artigos originais em inglês (ou pelo menos com resumo em inglês), com descrição das características clínicas, distribuição étnica e geográfica das diversas variantes de CMT4 através das ferramentas OMIM e pubmed da base de dados da NCBI. Resultados. Identificamos e descrevemos os genes, características clínicas, distribuição étnica e geográfica de 12 variantes de CMT4: A,

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Cited by 342 publications

References 8 publications

Axon Transport and Neuropathy

Axon Transport and Neuropathy

Mitochondrial respiratory chain dysfunction: Implications in neurodegeneration

Fenótipos Raros de Neuropatia Hereditária: Charcot-Marie-Tooth Tipo 4

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