Literature DB >> 17485640

Clinical heterogeneity of ATP13A2 linked disease (Kufor-Rakeb) justifies a PARK designation.

Andrew J Lees, Andrew B Singleton.   

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Year:  2007        PMID： 17485640     DOI： 10.1212/01.wnl.0000265228.66664.f4

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


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  12 in total

Review 1.  Genetics of neurodegeneration with brain iron accumulation.

Authors:  Allison Gregory; Susan J Hayflick
Journal:  Curr Neurol Neurosci Rep       Date:  2011-06       Impact factor: 5.081

2.  Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein.

Authors:  Jieqiong Tan; Tongmei Zhang; Li Jiang; Jingwei Chi; Dongshen Hu; Qian Pan; Danling Wang; Zhuohua Zhang
Journal:  J Biol Chem       Date:  2011-07-01       Impact factor: 5.157

Review 3.  Preserving Lysosomal Function in the Aging Brain: Insights from Neurodegeneration.

Authors:  Wesley Peng; Georgia Minakaki; Maria Nguyen; Dimitri Krainc
Journal:  Neurotherapeutics       Date:  2019-07       Impact factor: 7.620

4.  Mitochondrial dysfunction precedes other sub-cellular abnormalities in an in vitro model linked with cell death in Parkinson's disease.

Authors:  C J Yong-Kee; E Sidorova; A Hanif; G Perera; J E Nash
Journal:  Neurotox Res       Date:  2011-07-20       Impact factor: 3.911

Review 5.  Lysosomal impairment in Parkinson's disease.

Authors:  Benjamin Dehay; Marta Martinez-Vicente; Guy A Caldwell; Kim A Caldwell; Zhenyue Yue; Mark R Cookson; Christine Klein; Miquel Vila; Erwan Bezard
Journal:  Mov Disord       Date:  2013-04-11       Impact factor: 10.338

6.  ATP13A2 variability in Parkinson disease.

Authors:  Carles Vilariño-Güell; Alexandra I Soto; Sarah J Lincoln; Samia Ben Yahmed; Mounir Kefi; Michael G Heckman; Mary M Hulihan; Hua Chai; Nancy N Diehl; Rim Amouri; Alex Rajput; Deborah C Mash; Dennis W Dickson; Lefkos T Middleton; Rachel A Gibson; Faycal Hentati; Matthew J Farrer
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

7.  Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.

Authors:  Patrick J Schultheis; Sheila M Fleming; Amy K Clippinger; Jada Lewis; Taiji Tsunemi; Benoit Giasson; Dennis W Dickson; Joseph R Mazzulli; Mark E Bardgett; Kristi L Haik; Osunde Ekhator; Anil Kumar Chava; John Howard; Matt Gannon; Elizabeth Hoffman; Yinhuai Chen; Vikram Prasad; Stephen C Linn; Rafael J Tamargo; Wendy Westbroek; Ellen Sidransky; Dimitri Krainc; Gary E Shull
Journal:  Hum Mol Genet       Date:  2013-02-07       Impact factor: 6.150

8.  Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.

Authors:  Coro Paisán-Ruiz; Rocio Guevara; Monica Federoff; Hasmet Hanagasi; Fardaz Sina; Elahe Elahi; Susanne A Schneider; Petra Schwingenschuh; Nin Bajaj; Murat Emre; Andrew B Singleton; John Hardy; Kailash P Bhatia; Sebastian Brandner; Andrew J Lees; Henry Houlden
Journal:  Mov Disord       Date:  2010-09-15       Impact factor: 10.338

9.  Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.

Authors:  Aaron D Gitler; Alessandra Chesi; Melissa L Geddie; Katherine E Strathearn; Shusei Hamamichi; Kathryn J Hill; Kim A Caldwell; Guy A Caldwell; Antony A Cooper; Jean-Christophe Rochet; Susan Lindquist
Journal:  Nat Genet       Date:  2009-02-01       Impact factor: 38.330

Review 10.  The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.

Authors:  Eleanna Kara; John Hardy; Henry Houlden
Journal:  Curr Opin Neurol       Date:  2013-08       Impact factor: 5.710
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