P
Pavlina Wolf
Researcher at Genzyme
Publications - 13
Citations - 858
Pavlina Wolf is an academic researcher from Genzyme. The author has contributed to research in topics: CLN3 & Glucocerebrosidase. The author has an hindex of 9, co-authored 13 publications receiving 609 citations. Previous affiliations of Pavlina Wolf include Broad Institute & Harvard University.
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Journal ArticleDOI
Glucocerebrosidase activity in Parkinson’s disease with and without GBA mutations
Roy N. Alcalay,Oren A. Levy,Cheryl Waters,Stanley Fahn,Blair Ford,Sheng-Han Kuo,Pietro Mazzoni,Michael W. Pauciulo,William C. Nichols,Ziv Gan-Or,Guy A. Rouleau,Wendy K. Chung,Pavlina Wolf,Petra Oliva,Joan Keutzer,Karen Marder,Xiaokui Zhang +16 more
TL;DR: It is concluded that lower glucocerebrosidase enzymatic activity is strongly associated with GBA mutations, and modestly with idiopathic Parkinson's disease.
Journal ArticleDOI
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Elisa Fossale,Pavlina Wolf,Janice A. Espinola,Tanya Lubicz-Nawrocka,Allison Teed,Hanlin Gao,Dorotea Rigamonti,Elena Cattaneo,Marcy E. MacDonald,Susan L. Cotman +9 more
TL;DR: These findings reveal that battenin is required for intracellular membrane trafficking and mitochondrial function and may particularly impact neuronal survival in the JNCL disease process.
Journal ArticleDOI
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function
Uma Chandrachud,Mathew W. Walker,Alexandra M. Simas,Sasja Heetveld,Anton Petcherski,Madeleine C Klein,Hye Jin Oh,Pavlina Wolf,Wen-Ning Zhao,Stephanie Norton,Stephen J. Haggarty,Emyr Lloyd-Evans,Susan L. Cotman +12 more
TL;DR: An important role for the CLN3 protein in intracellular Ca2+ handling and in autophagic pathway flux is supported and a proof-of-concept is established for the application of drug screening to Batten disease research.
Journal ArticleDOI
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease
Roy N. Alcalay,Victoria Mallett,Benoît Vanderperre,Omid Tavassoly,Yves Dauvilliers,Richard Y.J. Wu,Richard Y.J. Wu,Jennifer A. Ruskey,Jennifer A. Ruskey,Claire S. Leblond,Claire S. Leblond,Amirthagowri Ambalavanan,Amirthagowri Ambalavanan,Sandra B. Laurent,Sandra B. Laurent,Dan Spiegelman,Dan Spiegelman,Alexandre Dionne-Laporte,Alexandre Dionne-Laporte,Christopher Liong,Oren A. Levy,Stanley Fahn,Cheryl Waters,Sheng-Han Kuo,Wendy K. Chung,Blair Ford,Karen Marder,Un Jung Kang,Sharon Hassin-Baer,Sharon Hassin-Baer,Lior Greenbaum,Lior Greenbaum,Jean-François Trempe,Pavlina Wolf,Petra Oliva,Xiaokui Kate Zhang,Lorraine N. Clark,Mélanie Langlois,Patrick A. Dion,Patrick A. Dion,Edward A. Fon,Nicolas Dupré,Guy A. Rouleau,Guy A. Rouleau,Ziv Gan-Or,Ziv Gan-Or +45 more
TL;DR: The objective of this study was to further investigate the role of SMPD1 mutations in PD.
Journal ArticleDOI
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Lynne Krohn,Lynne Krohn,Tugba N. Ozturk,Benoît Vanderperre,Benoît Vanderperre,Bouchra Ouled Amar Bencheikh,Bouchra Ouled Amar Bencheikh,Jennifer A. Ruskey,Jennifer A. Ruskey,Sandra B. Laurent,Sandra B. Laurent,Dan Spiegelman,Dan Spiegelman,Ronald B. Postuma,Ronald B. Postuma,Isabelle Arnulf,Michele T.M. Hu,Yves Dauvilliers,Birgit Högl,Ambra Stefani,Christelle Charley Monaca,Giuseppe Plazzi,Elena Antelmi,Luigi Ferini-Strambi,Anna Heidbreder,Uladzislau Rudakou,Uladzislau Rudakou,Valérie Cochen De Cock,Peter Young,Pavlina Wolf,Petra Oliva,Xiaokui Kate Zhang,Lior Greenbaum,Lior Greenbaum,Christopher Liong,Jean-François Gagnon,Jean-François Gagnon,A. Desautels,A. Desautels,S. Hassin-Baer,S. Hassin-Baer,S. Hassin-Baer,Jacques Montplaisir,Jacques Montplaisir,Nicolas Dupré,Guy A. Rouleau,Guy A. Rouleau,Edward A. Fon,Edward A. Fon,Jean-François Trempe,Guillaume Lamoureux,Roy N. Alcalay,Ziv Gan-Or,Ziv Gan-Or +53 more
TL;DR: The TMEM175/GAK/DGKQ locus is the 3rd strongest risk locus in genome‐wide association studies of Parkinson disease (PD) and specific disease‐associated variants in this locus are identified and their potential implications are identified.