Mutant Proteins (metabolism) < Mutation < Mutation (genetics)

Facettes :

List of bibliographic references

Number of relevant bibliographic references: 39.
[0-20] [0 - 20][0 - 39][20-38][20-40]

Ident.	Authors (with country if any)	Title
000354 (2004)	Yoshiaki Furukawa [Canada]	Update on dopa-responsive dystonia: locus heterogeneity and biochemical features.
000445 (2004)	Ajit Kumar [Canada] ; Susan M. Calne ; Michael Schulzer ; Edwin Mak ; Zbigniew Wszolek ; Chris Van Netten ; Joseph K C. Tsui ; A Jon Stoessl ; Donald B. Calne	Clustering of Parkinson disease: shared cause or coincidence?
000526 (2005)	F. Han [Canada] ; D E Bulman ; M. Panisset ; D A Grimes	Neurofilament M gene in a French-Canadian population with Parkinson's disease.
000560 (2005)	John R. Adams [Canada] ; Hinke Van Netten ; Michael Schulzer ; Edwin Mak ; Jessamyn Mckenzie ; Audrey Strongosky ; Vesna Sossi ; Thomas J. Ruth ; Chong S. Lee ; Matthew Farrer ; Thomas Gasser ; Ryan J. Uitti ; Donald B. Calne ; Zbigniew K. Wszolek ; A Jon Stoessl	PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation.
000582 (2006)	H. Ganjavi [Canada] ; M. Gee ; A. Narendran ; N. Parkinson ; M. Krishnamoorthy ; M H Freedman ; D. Malkin	Adenovirus-mediated p53 gene therapy in osteosarcoma cell lines: sensitization to cisplatin and doxorubicin.
000622 (2006)	R H Kim [Canada] ; T W Mak [Canada]	Tumours and tremors: how PTEN regulation underlies both
000624 (????)	Francois Gros-Louis [Canada] ; Claudia Gaspar ; Guy A. Rouleau	Genetics of familial and sporadic amyotrophic lateral sclerosis.
000641 (2006)	Peter E. Light [Canada]	Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction?
000793 (2007)	Judith Miklossy [Suisse] ; Hong Qing ; Jian-Ping Guo ; Sheng Yu ; Zbigniew K. Wszolek ; Donald Calne ; Edith G. Mcgeer ; Patrick L. Mcgeer	Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation.
000816 (2007)	Sheila R. Costford [Canada] ; Nihan Kavaslar ; Nadav Ahituv ; Shehla N. Chaudhry ; Wendy S. Schackwitz ; Robert Dent ; Len A. Pennacchio ; Ruth Mcpherson ; Mary-Ellen Harper	Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.
000866 (2008)	M. Emdadul Haque [Canada] ; Kelly J. Thomas [États-Unis] ; Cheryl D'Souza [Canada] ; Steve Callaghan [Canada] ; Tohru Kitada [États-Unis] ; Ruth S. Slack [Canada] ; Paul Fraser [Canada] ; Mark R. Cookson [États-Unis] ; Anurag Tandon [Canada] ; David S. Park [Canada]	Cytoplasmic Pink1 activity protects neurons from dopaminergic neurotoxin MPTP
000960 (2008)	Sabine Wislet-Gendebien [Canada, Belgique] ; Naomi P. Visanji [Canada] ; Shawn N. Whitehead [Canada] ; Diana Marsilio [Canada] ; Weimin Hou [Canada] ; Daniel Figeys [Canada] ; Paul E. Fraser [Canada] ; Steffany Al Bennett [Canada] ; Anurag Tandon [Canada]	Differential regulation of wild-type and mutant alpha-synuclein binding to synaptic membranes by cytosolic factors
000A88 (2009)	Wei Song [Canada] ; Amar Patel ; Hamid Y. Qureshi ; Dong Han ; Hyman M. Schipper ; Hemant K. Paudel	The Parkinson disease-associated A30P mutation stabilizes alpha-synuclein against proteasomal degradation triggered by heme oxygenase-1 over-expression in human neuroblastoma cells.
000B08 (2009)	Hong Qing [Canada] ; Winnie Wong ; Edith G. Mcgeer ; Patrick L. Mcgeer	Lrrk2 phosphorylates alpha synuclein at serine 129: Parkinson disease implications.
000C55 (2010)	Thilo Van Eimeren [Canada] ; Ferdinand Binkofski ; Carsten Buhmann ; Johann Hagenah ; Antonio P. Strafella ; Peter P. Pramstaller ; Hartwig R. Siebner ; Christine Klein	Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease.
000F16 (2011)	C. Marras ; B. Schuele ; R. P. Munhoz ; E. Rogaeva ; J. W. Langston ; M. Kasten ; C. Meaney ; C. Klein ; P. M. Wadia ; S.-Y. Lim ; R. S.-I. Chuang ; C. Zadikof ; T. Steeves ; K. M. Prakash ; R. M. A. De Bie ; G. Adeli ; T. Thomsen ; K. K. Johansen ; H. A. Teive ; A. Asante ; W. Reginold ; A. E. Lang	Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers
000F19 (2011)	Carles Vilari O-Güell [Canada] ; Christian Wider [Suisse] ; Owen A. Ross [États-Unis] ; Justus C. Dachsel [États-Unis] ; Jennifer M. Kachergus [États-Unis] ; Sarah J. Lincoln [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Stephanie A. Cobb [États-Unis] ; Greggory J. Wilhoite [États-Unis] ; Justin A. Bacon [États-Unis] ; Bahareh Behrouz [États-Unis] ; Heather L. Melrose [États-Unis] ; Emna Hentati [États-Unis] ; Andreas Puschmann [États-Unis, Suède] ; Daniel M. Evans [Canada] ; Elizabeth Conibear [Canada] ; Wyeth W. Wasserman [Canada] ; Jan O. Aasly [Norvège] ; Pierre R. Burkhard [Suisse] ; Ruth Djaldetti [Israël] ; Joseph Ghika [Suisse] ; Faycal Hentati [Tunisie] ; Anna Krygowska-Wajs [Pologne] ; Tim Lynch [Irlande (pays)] ; Eldad Melamed [Israël] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Alessandra Solida [Suisse] ; Ruey-Meei Wu [Taïwan] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; François Vingerhoets [Suisse] ; Matthew J. Farrer [Canada, États-Unis]	VPS35 Mutations in Parkinson Disease
001025 (2012)	J. O. Aasly ; M. Shi ; V. Sossi ; T. Stewart ; K. K. Johansen ; Z. K. Wszolek ; R. J. Uitti ; K. Hasegawa ; T. Yokoyama ; C. P. Zabetian ; H. M. Kim ; J. B. Leverenz ; C. Ginghina ; J. Armaly ; K. L. Edwards ; K. W. Snapinn ; A. J. Stoessl ; J. Zhang	Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers
001277 (2012)	David He [Canada] ; Ming Miao ; Eva E. Sitarz ; Lisa D. Muiznieks ; Sean Reichheld ; Richard J. Stahl ; Fred W. Keeley ; John Parkinson	Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.
001453 (2013)	Jean-François Trempe [Canada] ; Véronique Sauvé ; Karl Grenier ; Marjan Seirafi ; Matthew Y. Tang ; Marie Ménade ; Sameer Al-Abdul-Wahid ; Jonathan Krett ; Kathy Wong ; Guennadi Kozlov ; Bhushan Nagar ; Edward A. Fon ; Kalle Gehring	Structure of parkin reveals mechanisms for ubiquitin ligase activation.
001506 (2013)	Susanna Ekholm-Reed ; Matthew S. Goldberg ; Michael G. Schlossmacher ; Steven I. Reed	Parkin-Dependent Degradation of the F-Box Protein Fbw7β Promotes Neuronal Survival in Response to Oxidative Stress by Stabilizing Mcl-1

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