FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

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Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.

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Q47224898-2EB54BE0-A8F8-40A4-93A8-5ABE9180409B Q52721206-A64D0252-7AF1-4D6F-8589-A714D21D1A4F

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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Item

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FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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P1476

FDXR Mutations Cause Sensorial ...... drial Fe-S-Synthesis Diseases.

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P2093

Agnès Delahodde

http://www.w3.org/2001/XMLSchema#string

Anthony Drecourt

http://www.w3.org/2001/XMLSchema#string

Antoine Paul

http://www.w3.org/2001/XMLSchema#string

Christelle Domange

http://www.w3.org/2001/XMLSchema#string

Christelle Vasnier

http://www.w3.org/2001/XMLSchema#string

Christine Bole-Feysot

http://www.w3.org/2001/XMLSchema#string

Cécile Masson

http://www.w3.org/2001/XMLSchema#string

Delphine Dupin Deguine

http://www.w3.org/2001/XMLSchema#string

Didier Bouccara

http://www.w3.org/2001/XMLSchema#string

Fanny Mochel

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P2860

Functional reconstitution of mitochondrial Fe/S cluster synthesis on Isu1 reveals the involvement of ferredoxin

Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia.

Adrenodoxin reductase homolog (Arh1p) of yeast mitochondria required for iron homeostasis.

Cellular iron uptake, trafficking and metabolism: Key molecules and mechanisms and their roles in disease

5-Fluoroorotic acid as a selective agent in yeast molecular genetics

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

The in vivo mitochondrial two-step maturation of human frataxin.

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

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630-637

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scholarly article

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10.1016/J.AJHG.2017.09.007

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English

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101

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Agnès Rötig

Crystel Bonnet

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2017-09-28T00:00:00Z

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28965846

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5630197

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

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P2860

P2860

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

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