Results 11 to 20 of about 226,005 (247)

Parkin Disease [PDF]

JAMA Neurology, 2013
Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. The few available detailed neuropathologic reports suggest that homozygous and compound heterozygous parkin mutations are characterized by severe substantia nigra pars compacta neuronal loss.To investigate whether ...
Doherty, K, Silveira-Moriyama, L, Parkkinen, L, Healy, D, Farrell, M, Mencacci, N, Ahmed, Z, Brett, F, Hardy, J, Quinn, N, Counihan, T, Lynch, T, Fox, Z, Revesz, T, Lees, A, Holton, J   +15 more
openaire   +3 more sources

Stress-induced alterations in parkin solubility promote parkin aggregation and compromise parkin's protective function [PDF]

Human Molecular Genetics, 2005
Mutations in parkin are currently recognized as the most common cause of familial Parkinsonism. Emerging evidence also suggests that parkin expression variability may confer a risk for the development of the more common, sporadic form of Parkinson's disease (PD).
Wang, C., Chew, K.C.M., Tay, S.-P., Ho, M.W.L., Lim, K.-L., Lim, T.-M., Tsang, F., Soong, T.-W., Ko, H.S., Thomas, B., Dawson, V.L., Dawson, T.M., Troncoso, J., Pletnikova, O.   +13 more
openaire   +2 more sources

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro, Issam Tout, Stéphanie Narguet, Cheikh Mohamed Bed, Morgane Roinard, Ahmad Sleiman, Nathalie Boyer, Nathalie Pons‐Kerjean, Corinne Castelnau, Nathalie Giuly, Dorothy Tonui, Vassili Soumelis, Jamel El Benna, Patrick Soussan, Richard Moreau, Valérie Paradis, Abdellah Mansouri, Tarik Asselah   +17 more
wiley   +1 more source

Depletion of mitochondria in mammalian cells through enforced mitophagy [PDF]

, 2016
Mitochondria are not only the 'powerhouse' of the cell; they are also involved in a multitude of processes that include calcium storage, the cell cycle and cell death.
Correia-Melo, Clara, Ichim, Gabriel, Passos, João F., Tait, Stephen   +3 more
core   +1 more source

Case-control study of the parkin gene in early-onset Parkinson disease [PDF]

, 2006
Background: Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD.
Afridi, Shehla, Andrews, Howard F., Clark, Lorraine N., Cote, Lucien J., Fahn, Stanley, Ford, Blair, Frucht, Steven, Harris, Juliette, Karlins, Eric, Louis, Elan D., Marder, Karen, Mejia-Santana, Helen, Ottman, Ruth, Wang, Yuanjia, Waters, Cheryl H.   +14 more
core   +2 more sources

Risk of Parkinson disease in carriers of parkin mutations : estimation using the kin-cohort method [PDF]

, 2008
Objective: To estimate the risk of Parkinson disease (PD) in individuals with mutations in the Parkin gene. Design: We assessed point mutations and exon deletions and duplications in the Parkin gene in 247 probands with PD (age at onset 50 years) and ...
Andrews, Howard F., Clark, Lorraine N., Cote, Lucien J., Fahn, Stanley, Ford, Blair, Frucht, Steven, Harris, Juliette, Louis, Elan D., Marder, Karen, Mejia-Santana, Helen, Ottman, Ruth, Rabinowitz, Daniel, Wang, Yuanjia, Waters, Cheryl H.   +13 more
core   +2 more sources

Magnetic anisotropy and geometrical frustration in the Ising spin-chain system Sr5Rh4O12 [PDF]

, 2006
A structural and thermodynamic study of the newly synthesized single crystal Sr5Rh4O12 is reported. Sr5Rh4O12 consists of a triangular lattice of spin chains running along the c-axis. It is antiferromagnetically ordered below 23 K with the intrachain and
Aasland, Cao, Cao, Collins, G. Cao, Hardy, Hardy, Kageyama, Kudasov, Niitaka, Niitaka, P. Schlottmann, Ramirez, Rayaprol, S. Parkin, Schiffer, Sugiyama, Sugiyama, Wu   +18 more
core   +1 more source

Inhibition of apoptotic Bax translocation to the mitochondria is a central function of parkin [PDF]

, 2014
Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, affecting 1–3% of the population over 65. Mutations in the ubiquitin E3 ligase parkin are the most common cause of autosomal recessive PD.
Charan, R A, Johnson, B N, LaVoie, M J, Nardozzi, J D, Zaganelli, S   +4 more
core   +1 more source

Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson"s disease [PDF]

, 2014
Mutations in the PARK2 gene are associated with an autosomal recessive form of juvenile parkinsonism (AR-JP). These mutations affect parkin solubility and impair its E3 ligase activity, leading to a toxic accumulation of proteins within susceptible ...
Alberch i Vié, Jordi, Canal de la Iglesia, Mercè, Ezquerra, Mario, Fernández Santiago, Rubén, Greene, L. A., Lafuente, Amàlia, 1952-, Levy, O., Luebbert, H., Malagelada Grau, Cristina, Martín Flores, Núria, Pont Sunyer, Claustre, Pérez Fernández, Víctor, Romaní Aumedes, Joan, Sun, X., Tolosa, Eduardo, Wewering, S.   +15 more
core   +2 more sources

Pink1 and Parkin regulate Drosophila intestinal stem cell proliferation during stress and aging. [PDF]

, 2017
Intestinal stem cells (ISCs) maintain the midgut epithelium in Drosophila melanogaster Proper cellular turnover and tissue function rely on tightly regulated rates of ISC division and appropriate differentiation of daughter cells.
Abramov, Amcheslavsky, Amcheslavsky, Amcheslavsky, Benard, Biteau, Biteau, Biteau, Buchon, Buchon, Buchon, Christopher L. Koehler, Clark, Clarkson, Coppé, Correia-Melo, D. Leanne Jones, Deng, Greene, Guo, Guy A. Perkins, Hackenbrock, Han, Henchcliffe, Hochmuth, Hur, Jiang, Jiang, Jones, Kashatus, Lee, Lee, Li, Liu, Maeda, Marianes, Mark H. Ellisman, McGuire, Micchelli, Myant, Nakamura, Nicholson, Ohlstein, Ohlstein, Osterwalder, O’Brien, Park, Passos, Poole, Poole, Rana, Rera, Resende, Resnik-Docampo, Roman, Springer, Sykiotis, Takashima, Tian, Twig, Wang, Wang, Wei, Westermann, Yang, Youle, Zeng, Zeng, Zhu   +68 more
core   +1 more source