Literature DB >> 25477146

Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?

Brent L Fogel1, Sonya M Hanson, Esther B E Becker.   

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Year:  2014        PMID： 25477146      PMCID： PMC4318721          DOI： 10.1002/mds.26096

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  9 in total

Review 1.  Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Authors:  Vikram G Shakkottai; Brent L Fogel
Journal:  Neurol Clin       Date:  2013-07-30       Impact factor: 3.806

2.  Early onset of ataxia in moonwalker mice is accompanied by complete ablation of type II unipolar brush cells and Purkinje cell dysfunction.

Authors:  Gabriella Sekerková; Jin-Ah Kim; Maximiliano J Nigro; Esther B E Becker; Jana Hartmann; Lutz Birnbaumer; Enrico Mugnaini; Marco Martina
Journal:  J Neurosci       Date:  2013-12-11       Impact factor: 6.167

3.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

4.  Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Authors:  Scott E Hickey; Sawona Biswas; Devon Lamb Thrush; Robert E Pyatt; Julie M Gastier-Foster; Caroline Astbury; Joan Atkin
Journal:  Eur J Med Genet       Date:  2013-07-26       Impact factor: 2.708

Review 5.  An introduction to TRP channels.

Authors:  I Scott Ramsey; Markus Delling; David E Clapham
Journal:  Annu Rev Physiol       Date:  2006       Impact factor: 19.318

Review 6.  The Moonwalker mouse: new insights into TRPC3 function, cerebellar development, and ataxia.

Authors:  Esther B E Becker
Journal:  Cerebellum       Date:  2014-10       Impact factor: 3.847

7.  A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.

Authors:  Esther B E Becker; Peter L Oliver; Maike D Glitsch; Gareth T Banks; Francesca Achilli; Andrea Hardy; Patrick M Nolan; Elizabeth M C Fisher; Kay E Davies
Journal:  Proc Natl Acad Sci U S A       Date:  2009-04-07       Impact factor: 11.205

8.  Candidate screening of the TRPC3 gene in cerebellar ataxia.

Authors:  Esther B E Becker; Brent L Fogel; Sanjeev Rajakulendran; Anna Dulneva; Michael G Hanna; Susan L Perlman; Daniel H Geschwind; Kay E Davies
Journal:  Cerebellum       Date:  2011-06       Impact factor: 3.847

9.  Structure of the TRPV1 ion channel determined by electron cryo-microscopy.

Authors:  Maofu Liao; Erhu Cao; David Julius; Yifan Cheng
Journal:  Nature       Date:  2013-12-05       Impact factor: 49.962
  9 in total
  28 in total

Review 1.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

Review 2.  TRPC3-dependent synaptic transmission in central mammalian neurons.

Authors:  Jana Hartmann; Arthur Konnerth
Journal:  J Mol Med (Berl)       Date:  2015-06-05       Impact factor: 4.599

3.  Structure-function analyses of the ion channel TRPC3 reveal that its cytoplasmic domain allosterically modulates channel gating.

Authors:  Francisco Sierra-Valdez; Caleigh M Azumaya; Luis O Romero; Terunaga Nakagawa; Julio F Cordero-Morales
Journal:  J Biol Chem       Date:  2018-08-23       Impact factor: 5.157

Review 4.  Ion channel dysfunction in cerebellar ataxia.

Authors:  David D Bushart; Vikram G Shakkottai
Journal:  Neurosci Lett       Date:  2018-02-05       Impact factor: 3.046

5.  From Mice to Men: TRPC3 in Cerebellar Ataxia.

Authors:  Esther B E Becker
Journal:  Cerebellum       Date:  2017-12       Impact factor: 3.847

Review 6.  Cellular and circuit mechanisms underlying spinocerebellar ataxias.

Authors:  Pratap Meera; Stefan M Pulst; Thomas S Otis
Journal:  J Physiol       Date:  2016-06-12       Impact factor: 5.182

7.  Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice.

Authors:  Anton N Shuvaev; Nobutake Hosoi; Yamato Sato; Dai Yanagihara; Hirokazu Hirai
Journal:  J Physiol       Date:  2016-09-15       Impact factor: 5.182

Review 8.  Polyglutamine spinocerebellar ataxias - from genes to potential treatments.

Authors:  Henry L Paulson; Vikram G Shakkottai; H Brent Clark; Harry T Orr
Journal:  Nat Rev Neurosci       Date:  2017-08-17       Impact factor: 34.870

Review 9.  Are Type 1 metabotropic glutamate receptors a viable therapeutic target for the treatment of cerebellar ataxia?

Authors:  Emmet M Power; Natalya A English; Ruth M Empson
Journal:  J Physiol       Date:  2016-02-24       Impact factor: 5.182

10.  Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.

Authors:  Ravi Chopra; David D Bushart; John P Cooper; Dhananjay Yellajoshyula; Logan M Morrison; Haoran Huang; Hillary P Handler; Luke J Man; Warunee Dansithong; Daniel R Scoles; Stefan M Pulst; Harry T Orr; Vikram G Shakkottai
Journal:  Hum Mol Genet       Date:  2020-11-25       Impact factor: 6.150
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