Patent: FRATAXIN ENHANCER

Patent: FRATAXIN ENHANCER Original document: WO2015064447 (A1) ― 2015-05-07 Chibazakura, Taku; Tanaka, Tohru; Abe, Fuminori; Nakajima, Motowo; Kamiya, Atsuko; Haga, Naomi; Takahashi Kiwamu. Tokyo University Of Agriculture; Sbi Pharmaceuticals Co. Ltd - 2015-05-07 (full text in Japanese)

The purpose of the invention is to provide a drug effective in the treatment and prevention of diseases and the like caused by a decrease in frataxin production. [Solution] The invention provides a frataxin enhancer containing 5-aminolevulinic acid (ALA) or a derivative thereof or a salt of these, and a therapeutic agent and/or prophylactic agent for diseases caused by a decrease in frataxin production.

GAA triplet-repeats cause nucleosome depletion in the human genome

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Oxidative stress in inherited mitochondrial diseases

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Cardioprotective HIF-1α-frataxin signaling against ischemia-reperfusion injury.

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we postulated that HIF-1α transcriptionally regulates frataxin expression in response to hypoxia

Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

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Identification of telomere dysfunction in Friedreich ataxia

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Horizon Pharma begins phase 3 trial of Actimmune to treat Friedreich's Ataxia

Horizon Pharma begins phase 3 trial of Actimmune to treat Friedreich's Ataxia. Pharmabiz.com; Dublin, Ireland
Monday, June 08, 2015

Horizon Pharma plc, a biopharmaceutical company, has initiated the phase 3 Safety, Tolerability and Efficacy of Actimmune Dose Escalation in Friedreich's Ataxia study (STEADFAST) of Actimmune (interferon gamma-1b) for the treatment of people with Friedreich's Ataxia (FA), a degenerative neuro-muscular disorder.

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Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich’s Ataxia, SUPPLEMENTARY INFORMATION

SUPPLEMENTARY INFORMATION: Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich’s Ataxia. Yanjie Li, Urszula Polak, Angela D Bhalla, Natalia Rozwadowska, Jill Sergesketter Butler, David R Lynch, Sharon Y R Dent and Marek Napierala

Supplementary Information (pdf 6,731K)

ORIGINAL ARTICLE: Excision of expanded GAA repeats alleviates the molecular phenotype of Friedreich’s ataxia. Li Y, Polak U, Bhalla A, Rozwadowska N, Butler JS, Lynch D, Dent SY, Napierala M; Mol Ther. 2015 Mar 11. doi: 10.1038/mt.2015.41.

Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders

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