Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Pavlina Wolf"'
Autor:
Roy N. Alcalay, Pavlina Wolf, Ming Sum Ruby Chiang, Karolina Helesicova, Xiaokui Kate Zhang, Kalpana Merchant, Samantha J. Hutten, Clemens Scherzer, Chelsea Caspell‐Garcia, Cornelis Blauwendraat, Tatiana Foroud, Kelly Nudelman, Ziv Gan‐Or, Tanya Simuni, Lana M. Chahine, Oren Levy, Dandi Zheng, Gen Li, Sergio Pablo Sardi, The Parkinson’s Progression Markers Initiative
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1816-1830 (2020)
Abstract Objective Reduction in glucocerebrosidase (GCase; encoded by GBA) enzymatic activity has been linked to Parkinson’s disease (PD). Here, we correlated GCase activity and PD phenotype in the Parkinson’s Progression Markers Initiative (PPMI
Externí odkaz:
https://doaj.org/article/535af180a5f746bf9df8a123694b6688
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
Autor:
Wei-Lien Chuang, Joshua Pacheco, Samantha Cooper, Jonathan S. Kingsbury, John Hinds, Pavlina Wolf, Petra Oliva, Joan Keutzer, Gerald F. Cox, Kate Zhang
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 55-57 (2015)
Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann–Pick disease types A and B. Using previously published multiplex and single assay
Externí odkaz:
https://doaj.org/article/ba46dfa394d047ddbe6badab30e4c1ba
Autor:
Pavlina Wolf, Samantha J. Hutten, Clemens R. Scherzer, Ziv Gan-Or, Ming Sum Ruby Chiang, Dandi Zheng, Sergio Pablo Sardi, Tanya Simuni, Kalpana Merchant, Chelsea Caspell-Garcia, Tatiana Foroud, Xiaokui Kate Zhang, Roy N. Alcalay, Parkinson's Progression Markers Initiative, Kelly N.H. Nudelman, Cornelis Blauwendraat, Oren A. Levy, Karolina Helesicova, Gen Li, Lana M. Chahine
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1816-1830 (2020)
Annals of Clinical and Translational Neurology, Vol 7, Iss 10, Pp 1816-1830 (2020)
Author(s): Alcalay, Roy N; Wolf, Pavlina; Chiang, Ming Sum Ruby; Helesicova, Karolina; Zhang, Xiaokui Kate; Merchant, Kalpana; Hutten, Samantha J; Scherzer, Clemens; Caspell-Garcia, Chelsea; Blauwendraat, Cornelis; Foroud, Tatiana; Nudelman, Kelly; G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b971a0f83da7fe3e33b13cb0976b7b4
http://europepmc.org/articles/PMC7545591
http://europepmc.org/articles/PMC7545591
Autor:
Monica Lane, Clemens R. Scherzer, Kate Zhang, Wenfei Zhang, Catherine Viel, Petra Oliva, S. Pablo Sardi, Roy N. Alcalay, Lamya S. Shihabuddin, Pavlina Wolf, Melissa S. Rotunno, Anne-Marie Wills
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports
Scientific Reports
Parkinson’s disease, the most common age-related movement disorder, is a progressive neurodegenerative disease with unclear etiology. Better understanding of the underlying disease mechanism(s) is an urgent need for the development of disease-modif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949fc6f56f06990b2682e9c6607c086e
http://link.springer.com/article/10.1038/s41598-020-59414-4
http://link.springer.com/article/10.1038/s41598-020-59414-4
Autor:
Jean-François Trempe, Omid Tavassoly, Karen Marder, Patrick A. Dion, Edward A. Fon, Roy N. Alcalay, Petra Oliva, Un Jung Kang, Xiaokui Kate Zhang, Mélanie Langlois, Richard Y.J. Wu, Cheryl Waters, Sandra B. Laurent, Claire S. Leblond, Nicolas Dupré, Christopher Liong, Jennifer A. Ruskey, Wendy K. Chung, Sheng-Han Kuo, Blair Ford, Oren A. Levy, Lorraine N. Clark, Alexandre Dionne-Laporte, Pavlina Wolf, Amirthagowri Ambalavanan, Ziv Gan-Or, Benoît Vanderperre, Yves Dauvilliers, Victoria Mallett, Guy A. Rouleau, Dan Spiegelman, Sharon Hassin-Baer, Stanley Fahn, Lior Greenbaum
Publikováno v:
Movement Disorders. 34:526-535
Background: SMPD1 (acid-sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further investigate the role of SMPD1 mutations in PD. Methods: SMPD1 was sequenced in 3 cohorts (I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d2163eb8eaeea99d54fa5d1862d6af3c
https://doi.org/10.1002/mds.27642
https://doi.org/10.1002/mds.27642
Autor:
Un Jung Kang, Christopher Liong, S. Narayan, Oren A. Levy, Petra Oliva, Pavlina Wolf, Cheryl Waters, H. Shah, Guy A. Rouleau, Ziv Gan-Or, Xiaokui Kate Zhang, Karen Marder, William C. Nichols, Michael W. Pauciulo, Nora Vanegas, J. Keutzer, Wendy K. Chung, Blair Ford, Stanley Fahn, Roy N. Alcalay, Sheng-Han Kuo
Publikováno v:
Neurobiology of Disease, Vol 112, Iss, Pp 85-90 (2018)
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7ea649c8dbdc65f46fa29c0a56a33b
http://www.sciencedirect.com/science/article/pii/S0969996118300184
http://www.sciencedirect.com/science/article/pii/S0969996118300184
Autor:
Roy N, Alcalay, Victoria, Mallett, Benoît, Vanderperre, Omid, Tavassoly, Yves, Dauvilliers, Richard Y J, Wu, Jennifer A, Ruskey, Claire S, Leblond, Amirthagowri, Ambalavanan, Sandra B, Laurent, Dan, Spiegelman, Alexandre, Dionne-Laporte, Christopher, Liong, Oren A, Levy, Stanley, Fahn, Cheryl, Waters, Sheng-Han, Kuo, Wendy K, Chung, Blair, Ford, Karen S, Marder, Un Jung, Kang, Sharon, Hassin-Baer, Lior, Greenbaum, Jean-Francois, Trempe, Pavlina, Wolf, Petra, Oliva, Xiaokui Kate, Zhang, Lorraine N, Clark, Melanie, Langlois, Patrick A, Dion, Edward A, Fon, Nicolas, Dupre, Guy A, Rouleau, Ziv, Gan-Or
Publikováno v:
Movement Disorders
Movement Disorders, Wiley, 2019, 34 (4), pp.526-535. ⟨10.1002/mds.27642⟩
Movement Disorders, Wiley, 2019, 34 (4), pp.526-535. ⟨10.1002/mds.27642⟩
International audience; Background: SMPD1 (acid-sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further investigate the role of SMPD1 mutations in PD.Methods: SMPD1 was se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c15dd02586016c87f21cb3e7449ac0f0
https://hal.umontpellier.fr/hal-02886620
https://hal.umontpellier.fr/hal-02886620
Autor:
Uladzislau Rudakou, Edward A. Fon, Petra Oliva, Guy A. Rouleau, Yves Dauvilliers, Elena Antelmi, Birgit Högl, Anna Heidbreder, Jean-François Trempe, Christopher Liong, Bouchra Ouled Amar Bencheikh, Pavlina Wolf, Isabelle Arnulf, Luigi Ferini-Strambi, A. Desautels, Jennifer A. Ruskey, Peter Young, Nicolas Dupré, Valérie Cochen De Cock, Giuseppe Plazzi, Lior Greenbaum, Michele T.M. Hu, Lynne Krohn, Roy N. Alcalay, Guillaume Lamoureux, Ziv Gan-Or, Xiaokui Kate Zhang, Jacques Montplaisir, S. Hassin-Baer, Dan Spiegelman, Ronald B. Postuma, Ambra Stefani, Jean-François Gagnon, Christelle Charley Monaca, Benoît Vanderperre, Sandra B. Laurent, Tugba N. Ozturk
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2019, 87 (1), pp.139-153. ⟨10.1002/ana.25629⟩
Annals of Neurology, Wiley, 2019, 87 (1), pp.139-153. ⟨10.1002/ana.25629⟩
Objective The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome-wide association studies of Parkinson disease (PD). We aimed to identify the specific disease-associated variants in this locus, and their potential implications. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6784f7176e44e8bfcfec1f404e8e988b
https://pubmed.ncbi.nlm.nih.gov/31658403
https://pubmed.ncbi.nlm.nih.gov/31658403
Autor:
Harsh, Shah, Christopher, Liong, Oren A, Levy, Cheryl, Waters, Stanley, Fahn, Karen, Marder, Un J, Kang, Pavlina, Wolf, Petra, Oliva, Kate, Zhang, Roy N, Alcalay, Jose, Gutierrez
Publikováno v:
Stroke. 49(8)
BACKGROUND AND PURPOSE: Absent or diminished α-galactosidase A (GLA) and acid alpha-glucosidase (GAA) enzyme activity are core features of Fabry and Pompe disease, respectively. Patients with Fabry or Pompe disease may have dilated intracranial arte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::54d8ed3fbe9d486093908cca1600a363
https://pubmed.ncbi.nlm.nih.gov/29986930
https://pubmed.ncbi.nlm.nih.gov/29986930
Autor:
Stephanie Norton, Uma Chandrachud, Anton Petcherski, Sasja Heetveld, Stephen J. Haggarty, Pavlina Wolf, Hye Jin Oh, Susan L. Cotman, Madeleine C Klein, Alexandra M. Simas, Wen-Ning Zhao, Mathew W. Walker, Emyr Lloyd-Evans
Publikováno v:
Journal of Biological Chemistry. 290:14361-14380
Abnormal accumulation of undigested macromolecules, often disease-specific, is a major feature of lysosomal and neurodegenerative disease and is frequently attributed to defective autophagy. The mechanistic underpinnings of the autophagy defects are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace6ca77dfebd7e3e4eacc54e024612c
https://doi.org/10.1074/jbc.m114.621706
https://doi.org/10.1074/jbc.m114.621706