Journal ArticleDOI
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Vincenzo Bonifati,Vincenzo Bonifati,Patrizia Rizzu,Marijke J. van Baren,Onno Schaap,Guido J. Breedveld,Elmar Krieger,Marieke C. J. Dekker,Ferdinando Squitieri,Pablo Ibanez,Marijke Joosse,Jeroen W.F. van Dongen,Nicola Vanacore,Nicola Vanacore,John C. van Swieten,Alexis Brice,Giuseppe Meco,Cornelia M. van Duijn,Ben A. Oostra,Peter Heutink +19 more
Reads0
Chats0
TLDR
It is shown that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism, and these findings indicate that loss ofDJ-1 function leads to neurodegeneration.Abstract:
The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response. Our findings indicate that loss of DJ-1 function leads to neurodegeneration. Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease.read more
Citations
More filters
Journal ArticleDOI
Parkinson's disease: the genetics of a heterogeneous disorder.
TL;DR: The identification of LRRK2 mutations and the association of common variants in SNCA and UCH‐L1 in apparently sporadic late‐onset disease indicate these genes may be of greater importance than previously believed.
Journal ArticleDOI
Age-related diseases as vicious cycles.
TL;DR: It is proposed that each ARD is mediated by one or several positive feedback loops (vicious cycles) and that the progression of ARDs can be halted by selectively interrupting the vicious cycles and suggest the most promising targets.
Journal ArticleDOI
Parkin mutations in familial and sporadic Parkinson's disease among Indians
Shashi Chaudhary,Madhuri Behari,Maninder Dihana,Pazhayannur V. Swaminath,Shyla T. Govindappa,Sachi Jayaram,Vinay Goyal,Arindam Maitra,Uday B. Muthane,Ramesh C. Juyal,B.K. Thelma +10 more
TL;DR: A mutation frequency of 8.5% in Parkin gene among Indian PD patients is observed based on sequencing and gene dosage analysis of its exons and seven point mutations of which seven are novel and hitherto unreported are identified.
Journal ArticleDOI
PINK1 enhances insulin-like growth factor-1-dependent Akt signaling and protection against apoptosis.
TL;DR: The studies show that PINK1 is required for optimal IGF-1 and insulin dependent Akt signal transduction, and raise the possibility that impaired IGF- 1/Akt signaling is involved in Pink1-related Parkinsonism by increasing the vulnerability of dopaminergic neurons to stress-induced cell death.
Journal ArticleDOI
DNA methylation in neurodegenerative disorders: a missing link between genome and environment?
TL;DR: DNA methylation in neurodegenerative disorders is a missing link between genome and environment and could be a cause for concern in future studies.
References
More filters
Journal ArticleDOI
WHAT IF: A molecular modeling and drug design program
TL;DR: The menu-driven operation of WHAT IF, combined with the use of default values wherever user input is required, makes it very easy to use for a novice user while keeping full flexibility for more sophisticated studies.
Journal ArticleDOI
Twilight zone of protein sequence alignments.
TL;DR: All findings are applicable to automatic database searches and using intermediate sequences for finding links between more distant families was almost as successful: pairs were predicted to be homologous when the respective sequence families had proteins in common.
Journal ArticleDOI
Increasing the precision of comparative models with YASARA NOVA--a self-parameterizing force field.
TL;DR: An all‐atom force field aimed at protein and nucleotide optimization in vacuo (NOVA), which has been specifically designed to avoid this problem and can be applied to modeling applications as well as X‐ray and NMR structure refinement.
Journal ArticleDOI
DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras.
Daisuke Nagakubo,Takahiro Taira,Hirotake Kitaura,Masako Ikeda,Katsuyuki Tamai,Sanae M.M. Iguchi-Ariga,Hiroyoshi Ariga +6 more
TL;DR: DJ-1 showed a cooperative transforming activity with H-Ras, more than 3 times as strong as the activity of ras/myc combination and is suggested to be a novel mitogen-dependent oncogene product involved in a Ras-related signal transduction pathway.
Related Papers (5)
Mutation in the α-synuclein gene identified in families with Parkinson's disease
Mihael H. Polymeropoulos,Christian Lavedan,Elisabeth Leroy,Susan E. Ide,Anindya Dehejia,Amalia Dutra,Brian L. Pike,Holly Root,Jeffrey Rubenstein,Rebecca Boyer,Edward S. Stenroos,Settara C. Chandrasekharappa,Aglaia Athanassiadou,Theodore Papapetropoulos,William G. Johnson,Alice Lazzarini,Roger C. Duvoisin,Giuseppe Di Iorio,Lawrence I. Golbe,Robert L. Nussbaum +19 more
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Eriza Maria Valente,Patrick M. Abou-Sleiman,Viviana Caputo,Miratul M. K. Muqit,Kirsten Harvey,Suzana Gispert,Zeeshan Ali,Domenico Del Turco,Anna Rita Bentivoglio,Daniel G. Healy,Alberto Albanese,Robert L. Nussbaum,Rafael González-Maldonado,Thomas Deller,S Salvi,Pietro Cortelli,William P. Gilks,David S. Latchman,Roberk J. Harvey,Bruno Dallapiccola,Georg Auburger,Nicholas W. Wood +21 more
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Alexander Zimprich,Alexander Zimprich,Saskia Biskup,Petra Leitner,Peter Lichtner,Matthew J. Farrer,Sarah Lincoln,Jennifer M. Kachergus,Mary M. Hulihan,Ryan J. Uitti,Donald B. Calne,A. Jon Stoessl,Ronald F. Pfeiffer,Nadja Patenge,Iria Carballo Carbajal,Peter Vieregge,Friedrich Asmus,Bertram Müller-Myhsok,Dennis W. Dickson,Thomas Meitinger,Tim M. Strom,Zbigniew K. Wszolek,Thomas Gasser +22 more
α-Synuclein Locus Triplication Causes Parkinson's Disease
Andrew B. Singleton,Matthew J. Farrer,Joshua C. Johnson,Amanda Singleton,Stephen Hague,Jennifer M. Kachergus,Mary M. Hulihan,Terhi Peuralinna,Amalia Dutra,Robert L. Nussbaum,Sarah Lincoln,Anthony Crawley,Melissa Hanson,Demetrius M. Maraganore,Charles H. Adler,Mark R. Cookson,Manfred D. Muenter,Melisa J. Baptista,David Miller,J. Blancato,John Hardy,Katrina Gwinn-Hardy +21 more