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
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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
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An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.
Manabu Funayama,Kazuko Hasegawa,Etsuro Ohta,Noriko Kawashima,Masaru Komiyama,Hisayuki Kowa,Shoji Tsuji,Fumiya Obata +7 more
TL;DR: The results of the Sagamihara family, in combination with the unique pathological features characterized by pure nigral degeneration without Lewy bodies, provided valuable information for elucidating the protein structure–pathogenesis relationship for the gene product of LRRK2.
Journal ArticleDOI
Formation and signaling actions of electrophilic lipids.
TL;DR: A better understanding of the chemistry of electrophilic species will permit prediction of downstream reactions and subsequent biological responses that also include tissue-protective and anti-inflammatory actions.
Journal ArticleDOI
Rapamycin protects against rotenone-induced apoptosis through autophagy induction
TL;DR: In this study, rotenone-exposed human neuronal SH-SY5Y cells were used as an in vitro model to determine whether autophagy enhancer rapamycin could protect against roten one-induced injury and its underlying mechanisms and it was concluded that pharmacologically induction ofAutophagy by rap amycin may represent a useful therapeutic strategy as disease-modifiers in PD.
Journal ArticleDOI
Novel PINK1 mutations in early-onset parkinsonism.
Yasuko Hatano,Yuanzhe Li,Kenichi Sato,Shuichi Asakawa,Yasuhiro Yamamura,Hiroyuki Tomiyama,Hiroyo Yoshino,Masato Asahina,Susumu Kobayashi,Sharon Hassin-Baer,Chin-Song Lu,Arlene R. Ng,Raymond L. Rosales,Nobuyoshi Shimizu,Tatsushi Toda,Yoshikuni Mizuno,Nobutaka Hattori +16 more
TL;DR: Mutation analysis in eight inbred families whose haplotypes link to the PARK6 region identified six pathogenic mutations in six unrelated families, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.
Journal ArticleDOI
Similar Patterns of Mitochondrial Vulnerability and Rescue Induced by Genetic Modification of α-Synuclein, Parkin, and DJ-1 in Caenorhabditis elegans
Rina Ved,Shamol Saha,Beth Westlund,Celine Perier,Lucinda Burnam,Anne Sluder,Marius C. Hoener,Cecília M. P. Rodrigues,Aixa Alfonso,Clifford J. Steer,Leo X. Liu,Serge Przedborski,Benjamin Wolozin +12 more
TL;DR: The results show that diverse PD-related genetic modifications disrupt the mitochondrial function in C. elegans, and they raise the possibility that mitochondrial disruption is a pathway shared in common by many types of familial PD.
References
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Daisuke Nagakubo,Takahiro Taira,Hirotake Kitaura,Masako Ikeda,Katsuyuki Tamai,Sanae M.M. Iguchi-Ariga,Hiroyoshi Ariga +6 more
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