Literature DB >> 14713215

Identification of PEX7 as the second gene involved in Refsum disease.

Daan M Van den Brink1, Pedro Brites, Janet Haasjes, Anthony S Wierzbicki, John Mitchell, Michelle Lambert-Hamill, Jacqueline de Belleroche, Gerbert A Jansen, Hans R Waterham, Ronald J A Wanders.   

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Year:  2003        PMID： 14713215     DOI： 10.1007/978-1-4419-9072-3_9

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  5 in total

1.  Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.

Authors:  Estela Natacha Brandt Busanello; Ângela Zanatta; Anelise Miotti Tonin; Carolina Maso Viegas; Carmen Regla Vargas; Guilhian Leipnitz; César Augusto João Ribeiro; Moacir Wajner
Journal:  J Bioenerg Biomembr       Date:  2012-11-15       Impact factor: 2.945

2.  Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.

Authors:  Claire L Simpson; Robert Wojciechowski; Grace Ibay; Dwight Stambolian; Joan E Bailey-Wilson
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

3.  PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature.

Authors:  Lorenzo Nanetti; Viviana Pensato; Valerio Leoni; Manuela Rizzetto; Claudio Caccia; Franco Taroni; Caterina Mariotti; Cinzia Gellera
Journal:  J Clin Neurol       Date:  2015-04       Impact factor: 3.077

Review 4.  Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.

Authors:  Kao-Jung Chang; Hsin-Yu Wu; Aliaksandr A Yarmishyn; Cheng-Yi Li; Yu-Jer Hsiao; Yi-Chun Chi; Tzu-Chen Lo; He-Jhen Dai; Yi-Chiang Yang; Ding-Hao Liu; De-Kuang Hwang; Shih-Jen Chen; Chih-Chien Hsu; Chung-Lan Kao
Journal:  Int J Mol Sci       Date:  2022-08-26       Impact factor: 6.208

5.  Oral batyl alcohol supplementation rescues decreased cardiac conduction in ether phospholipid-deficient mice.

Authors:  Hannes Todt; Fabian Dorninger; Peter J Rothauer; Claus M Fischer; Michael Schranz; Britta Bruegger; Christian Lüchtenborg; Janine Ebner; Karlheinz Hilber; Xaver Koenig; Fatma A Erdem; Vaibhavkumar S Gawali; Johannes Berger
Journal:  J Inherit Metab Dis       Date:  2020-06-05       Impact factor: 4.750
  5 in total

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