Literature DB >> 8965888

Retinitis pigmentosa and ataxia caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

T Yokota, T Shiojiri, T Gotoda, H Arai.   

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Year:  1996        PMID： 8965888     DOI： 10.1056/NEJM199612053352315

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  18 in total

1.  Occupational therapy intervention to inspire self-efficacy in a patient with spinal ataxia and visual disturbance.

Authors:  Satsuki Tohyama; Fusako Usuki
Journal:  BMJ Case Rep       Date:  2015-02-09

2.  Utility of a fluorescent vitamin E analogue as a probe for tocopherol transfer protein activity.

Authors:  Samantha Morley; Valerie Cross; Matt Cecchini; Phil Nava; Jeffrey Atkinson; Danny Manor
Journal:  Biochemistry       Date:  2006-01-31       Impact factor: 3.162

3.  Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene.

Authors:  Satoshi Kono; Akiko Otsuji; Hiroaki Hattori; Kentaro Shirakawa; Hitoshi Suzuki; Hiroaki Miyajima
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849

4.  A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.

Authors:  Johanna M Seddon; Susan L Santangelo; Kathryn Book; Sandy Chong; Jennifer Cote
Journal:  Am J Hum Genet       Date:  2003-08-22       Impact factor: 11.025

Review 5.  Tocotrienols: the lesser known form of natural vitamin E.

Authors:  Viren Patel; Cameron Rink; Savita Khanna; Chandan K Sen
Journal:  Indian J Exp Biol       Date:  2011-10       Impact factor: 0.818

6.  Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress.

Authors:  T Yokota; K Igarashi; T Uchihara; K Jishage; H Tomita; A Inaba; Y Li; M Arita; H Suzuki; H Mizusawa; H Arai
Journal:  Proc Natl Acad Sci U S A       Date:  2001-12-18       Impact factor: 11.205

7.  Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Authors:  L Cavalier; K Ouahchi; H J Kayden; S Di Donato; L Reutenauer; J L Mandel; M Koenig
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

8.  Pigment retinopathy in warmblood horses with equine degenerative myeloencephalopathy and equine motor neuron disease.

Authors:  Carrie J Finno; Heather J Kaese; Andrew D Miller; Giuliana Gianino; Thomas Divers; Stephanie J Valberg
Journal:  Vet Ophthalmol       Date:  2016-08-05       Impact factor: 1.644

9.  Mechanisms of ligand transfer by the hepatic tocopherol transfer protein.

Authors:  Samantha Morley; Matt Cecchini; Wendy Zhang; Alessandro Virgulti; Noa Noy; Jeffrey Atkinson; Danny Manor
Journal:  J Biol Chem       Date:  2008-05-05       Impact factor: 5.157

10.  Mice lacking alpha-tocopherol transfer protein gene have severe alpha-tocopherol deficiency in multiple regions of the central nervous system.

Authors:  Kishorchandra Gohil; Saji Oommen; Hung T Quach; Vihas T Vasu; Hnin Hnin Aung; Bettina Schock; Carroll E Cross; Govind T Vatassery
Journal:  Brain Res       Date:  2008-02-09       Impact factor: 3.252
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