Literature DB >> 18818715

Casting an eye on the Krebs cycle.

Arnold Munnich.   

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Year:  2008        PMID： 18818715     DOI： 10.1038/ng1008-1148

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  6 in total

1.  Synthesis of the 1-monoester of 2-ketoalkanedioic acids, for example, octyl α-ketoglutarate.

Authors:  Michael E Jung; Gang Deng
Journal:  J Org Chem       Date:  2012-11-28       Impact factor: 4.354

2.  ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Authors:  Christian G Bouwkamp; Zaid Afawi; Aviva Fattal-Valevski; Inge E Krabbendam; Stefano Rivetti; Rafik Masalha; Marialuisa Quadri; Guido J Breedveld; Hanna Mandel; Muhammad Abu Tailakh; H Berna Beverloo; Giovanni Stevanin; Alexis Brice; Wilfred F J van IJcken; Meike W Vernooij; Amalia M Dolga; Femke M S de Vrij; Vincenzo Bonifati; Steven A Kushner
Journal:  Neurol Genet       Date:  2018-03-21

3.  ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Authors:  Cecilia Marelli; Christian Hamel; Melanie Quiles; Bertrand Carlander; Lise Larrieu; Cecile Delettre; Emmanuelle Sarzi; Dominique Chretien; Pierre Rustin; Michel Koenig; Claire Guissart
Journal:  Neurol Genet       Date:  2018-03-20

4.  Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

Authors:  Amy S Findlay; Roderick N Carter; Becky Starbuck; Lisa McKie; Klára Nováková; Peter S Budd; Margaret A Keighren; Joseph A Marsh; Sally H Cross; Michelle M Simon; Paul K Potter; Nicholas M Morton; Ian J Jackson
Journal:  Dis Model Mech       Date:  2018-12-18       Impact factor: 5.758

5.  Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.

Authors:  Takenori Tozawa; Akira Nishimura; Tamaki Ueno; Akane Shikata; Yoshihiro Taura; Takeshi Yoshida; Naoko Nakagawa; Takahito Wada; Shinji Kosugi; Tomoko Uehara; Toshiki Takenouchi; Kenjiro Kosaki; Tomohiro Chiyonobu
Journal:  Hum Genome Var       Date:  2021-01-26

6.  Human disease locus discovery and mapping to molecular pathways through phylogenetic profiling.

Authors:  Yuval Tabach; Tamar Golan; Abrahan Hernández-Hernández; Arielle R Messer; Tomoyuki Fukuda; Anna Kouznetsova; Jian-Guo Liu; Ingrid Lilienthal; Carmit Levy; Gary Ruvkun
Journal:  Mol Syst Biol       Date:  2013-10-01       Impact factor: 11.429
  6 in total

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