KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers-Reference-Cited by-同舟云学术

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KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

Published:2017-10-16 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Koene Saskia,Spaans Edwin,Van Bortel Luc,Van Lancker Griet,Delafontaine Brant,Badilini Fabio,Beyrath Julien,Smeitink Jan

Funder

Zeldzame Ziekten Fonds

ZonMw (NL)

Energy4all; Join4energy; Ride4kids; Tim Foundation

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0715-0.pdf

Reference20 articles.

1. Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res. 2016;44:D1251–7.

2. Koopman WJ, Willems PH, Smeitink JA. Monogenic mitochondrial disorders. N Engl J Med. 2012;366:1132–41.

3. Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, et al. Natural disease course and genotype-phenotype correlations in complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. J Inherit Metab Dis. 2012;35:737–47.

4. Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77:753–9.

5. Koopman WJ, Beyrath J, Fung CW, Koene S, Rodenburg RJ, Willems PH, Smeitink JA. Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med. 2016;8:311–27.

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