A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. - Wikidata - awgldk - TriplyDB

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

http://www.wikidata.org/entity/Q30496256

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Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease.Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.The 3-methylglutaconic acidurias: what's new?Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.How mitochondrial dysfunction affects zebrafish development and cardiovascular function: an in vivo model for testing mitochondria-targeted drugs.Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome.

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A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.

http://www.wikidata.org/entity/Q30496256

description

2010 nî lūn-bûn

@nan

2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի օգոստոսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

A model of Costeff Syndrome re ...... nctions of mitochondrial OPA3.

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A model of Costeff Syndrome re ...... nctions of mitochondrial OPA3.

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type

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A model of Costeff Syndrome re ...... nctions of mitochondrial OPA3.

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A model of Costeff Syndrome re ...... nctions of mitochondrial OPA3.

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A model of Costeff Syndrome re ...... nctions of mitochondrial OPA3.

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A model of Costeff Syndrome re ...... nctions of mitochondrial OPA3.

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A model of Costeff Syndrome re ...... unctions of mitochondrial OPA3

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Carla Ciccone

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Heidi Dorward

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Isa Bernardini

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Lisa E Kratz

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Marjan Huizing

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Raman Sood

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Richard I Kelley

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Tohei Yokogawa

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Wuhong Pei

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Yair Anikster

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P2860

Sterol Biosynthesis

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Stages of embryonic development of the zebrafish

3-Methylglutaconic aciduria type I is caused by mutations in AUH

A novel X-linked gene, G4.5. is responsible for Barth syndrome

7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

Proteomic analysis of the mouse liver mitochondrial inner membrane

A missense mutation in the murine Opa3 gene models human Costeff syndrome

OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria

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2587-2596

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scholarly article

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10.1242/DEV.043745

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15

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137

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Benjamin Feldman

Harold A Burgess

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2010-08-01T00:00:00Z

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45185200

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20627962

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