Literature DB >> 21576695

AMACR mutations cause late-onset autosomal recessive cerebellar ataxia.

David Dick1, Rita Horvath, Patrick F Chinnery.   

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Year:  2011        PMID： 21576695      PMCID： PMC3100132          DOI： 10.1212/WNL.0b013e31821a4484

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

1.  Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Authors:  S Ferdinandusse; S Denis; P T Clayton; A Graham; J E Rees; J T Allen; B N McLean; A Y Brown; P Vreken; H R Waterham; R J Wanders
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

Review 2.  Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.

Authors:  A S Wierzbicki
Journal:  Biochem Soc Trans       Date:  2007-11       Impact factor: 5.407

3.  A new defect of peroxisomal function involving pristanic acid: a case report.

Authors:  B N McLean; J Allen; S Ferdinandusse; R J A Wanders
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-03       Impact factor: 10.154

4.  Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.

Authors:  Mirna Assoum; Mustafa A Salih; Nathalie Drouot; Dorra H'Mida-Ben Brahim; Clotilde Lagier-Tourenne; Abdulmajeed AlDrees; Salah A Elmalik; Taha S Ahmed; Mohammad Z Seidahmed; Mohammad M Kabiraj; Michel Koenig
Journal:  Brain       Date:  2010-08       Impact factor: 13.501

5.  The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes.

Authors:  Sabine Rönicke; Nicol Kruska; Stefan Kahlert; Georg Reiser
Journal:  Neurobiol Dis       Date:  2009-08-22       Impact factor: 5.996

6.  Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.

Authors:  S A Thompson; J Calvin; S Hogg; S Ferdinandusse; R J A Wanders; R A Barker
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-11-21       Impact factor: 10.154
  6 in total
  10 in total

Review 1.  Peroxisomes of the Brain: Distribution, Functions, and Associated Diseases.

Authors:  Rachayeeta Deb; Neha Joshi; Shirisha Nagotu
Journal:  Neurotox Res       Date:  2021-01-05       Impact factor: 3.911

2.  Autosomal recessive adult onset ataxia.

Authors:  Nataša Dragašević-Mišković; Iva Stanković; Andona Milovanović; Vladimir S Kostić
Journal:  J Neurol       Date:  2021-09-09       Impact factor: 4.849

Review 3.  Peroxisomes in brain development and function.

Authors:  Johannes Berger; Fabian Dorninger; Sonja Forss-Petter; Markus Kunze
Journal:  Biochim Biophys Acta       Date:  2015-12-11

4.  Exploiting the transcriptional specificity of the alpha-methylacyl-CoA racemase AMACR promoter for the molecular imaging of prostate cancer.

Authors:  Mariya Shapovalova; Julia Davydova; Christine Henzler; Mark Daniel; Scott M Dehm; Christopher A Warlick; Aaron M LeBeau
Journal:  Oncotarget       Date:  2018-11-30

5.  VPS13D promotes peroxisome biogenesis.

Authors:  Heather A Baldwin; Chunxin Wang; Gil Kanfer; Hetal V Shah; Antonio Velayos-Baeza; Marija Dulovic-Mahlow; Norbert Brüggemann; Allyson Anding; Eric H Baehrecke; Dragan Maric; William A Prinz; Richard J Youle
Journal:  J Cell Biol       Date:  2021-05-03       Impact factor: 10.539

6.  Methylated Cytochrome P450 and the Solute Carrier Family of Genes Correlate With Perturbations in Bile Acid Metabolism in Parkinson's Disease.

Authors:  Sangeetha Vishweswaraiah; Sumeyya Akyol; Ali Yilmaz; Zafer Ugur; Juozas Gordevičius; Kyung Joon Oh; Patrik Brundin; Uppala Radhakrishna; Viviane Labrie; Stewart F Graham
Journal:  Front Neurosci       Date:  2022-03-31       Impact factor: 4.677

7.  MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Authors:  Kristoffer Haugarvoll; Stefan Johansson; Charalampos Tzoulis; Bjørn Ivar Haukanes; Cecilie Bredrup; Gesche Neckelmann; Helge Boman; Per Morten Knappskog; Laurence A Bindoff
Journal:  Orphanet J Rare Dis       Date:  2013-01-03       Impact factor: 4.123

8.  Peroxisome biogenesis disorders.

Authors:  Catherine Argyriou; Maria Daniela D'Agostino; Nancy Braverman
Journal:  Transl Sci Rare Dis       Date:  2016-11-07

Review 9.  Current Knowledge on the Function of α-Methyl Acyl-CoA Racemase in Human Diseases.

Authors:  Gyeyeong Kong; Hyunji Lee; Quangdon Tran; Chaeyeong Kim; Nayoung Gong; Jisoo Park; So Hee Kwon; Seon-Hwan Kim; Jongsun Park
Journal:  Front Mol Biosci       Date:  2020-07-14

10.  Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.

Authors:  Abrar K Alsalamah; Arif O Khan
Journal:  Mol Vis       Date:  2021-07-01       Impact factor: 2.367
  10 in total

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