Results 181 to 190 of about 8,108 (242)

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh, Lei Cheng Lit, Shen‐Yang Lim, Jia Wei Hor, Choey Yee Lew, Anis Nadhirah Khairul Anuar, Yi Wen Tay, Kirsten Black, Jia Lun Lim, Jannah Zulkefli, Kai Shi Lim, Hans Xing Ding, Shalini Padmanabhan, Azlina Ahmad‐Annuar, Eng King Tan, Dario R. Alessi, Esther Sammler, Ai Huey Tan   +17 more
wiley   +1 more source

Seeing Invisible Oligomers: Rethinking α‐Synuclein Pathology Through Proximity Ligation Assay

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) and multiple system atrophy are defined by α‐synuclein (αSYN)‐positive inclusions – Lewy bodies (LBs) and glial cytoplasmic inclusions – yet mounting evidence indicates that these inclusions represent only a fraction of disease‐relevant pathology.
Hiroaki Sekiya, Nanna Møller Jensen, Dennis W. Dickson, Poul Henning Jensen   +3 more
wiley   +1 more source

The application of enzyme replacement therapy in vitro and in a mouse model in aspartylglycosaminuria [PDF]

Dunder, Ulla
core  

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

SARS‐CoV‐2 enhances lysosomal exocytosis and deacidifies lysosomes to facilitate viral release

mLife, EarlyView.
Abstract The mechanism of SARS‐CoV‐2 egress predominantly governs the quantity and quality of progeny viruses, thereby significantly contributing to viral pathogenicity. However, the key factors influencing viral egress remain largely unclear. In this study, using transcription‐ and replication‐competent SARS‐CoV‐2 virus‐like‐particle (SARS‐CoV‐2 trVLP)
Fujun Qin, Chuang Yan, Zizheng Liu, Dianbing Wang, Huimin Zhong, Qiang Ding, Minghai Chen, Xian‐En Zhang   +7 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Lysosomal Storage Disease [PDF]

, 2020
openaire   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source