Results 61 to 70 of about 9,202 (225)

Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease

Frontiers in Pediatrics, 2023
Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of ...
Jianfang Zhu, Yuxiao Sun, Weiyan Zheng, Chunlin Wang   +3 more
doaj   +1 more source

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

Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency

Autophagy Reports
Mutations in the GBA1 (glucosylceramidase beta 1) gene cause the most common lysosomal storage disorder, Gaucher disease (GD), characterized by the lysosomal accumulation of glucosylceramide and lysosomal dysfunction.
Magda L. Atilano, Alexander J. Hull, Kerri J. Kinghorn   +2 more
doaj   +1 more source

Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis

Journal of Lipid Research, 2014
Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF).
Paulo Gaspar, Wouter W. Kallemeijn, Anneke Strijland, Saskia Scheij, Marco Van Eijk, Jan Aten, Herman S. Overkleeft, Andrea Balreira, Friederike Zunke, Michael Schwake, Clara Sá Miranda, JohannesM.F.G. Aerts   +11 more
doaj   +1 more source

The Future of Targeted Gene-Based Treatment Strategies and Biomarkers in Parkinson’s Disease

Biomolecules, 2020
Biomarkers and disease-modifying therapies are both urgent unmet medical needs in the treatment of Parkinson’s disease (PD) and must be developed concurrently because of their interdependent relationship: biomarkers for the early detection of disease (i ...
Alexia Polissidis, Lilian Petropoulou-Vathi, Modestos Nakos-Bimpos, Hardy J. Rideout   +3 more
doaj   +1 more source

Morbus gaucher: A report of two cases [PDF]

Vojnosanitetski Pregled, 2006
Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
doaj   +1 more source

Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease

Frontiers in Neurology, 2022
ObjectiveBiallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD).
Grisel J. Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L. Lecker, Ellen Sidransky   +5 more
doaj   +1 more source

Prognosis in Parkinson's Disease: An Individual Patient Data Meta‐Analysis of Six European Incidence Cohorts

Movement Disorders, EarlyView.
Abstract Background An accurate understanding of prognosis in Parkinson's disease (PD) is important for patient information provision, personalized treatment, and clinical trial design, but most previous research has been biased towards younger, healthier patients.
Angus D. Macleod, David J. McLernon, Marta Camacho, Caroline H. Williams‐Gray, Rachael A. Lawson, Alison J. Yarnall, David Bäckström, Lars Forsgren, Jodi Maple‐Grødem, Guido Alves, Ole‐Bjørn Tysnes, Carl E. Counsell, Parkinson's Incidence Cohorts Collaboration, Thomas Foltynie, Sarah L. Mason, Ruwani Wijeyekoon, Jonathan Evans, David P. Breen, Gemma Cummins, Krista Farrell, Kirsten Scott, Tom Stoker, Julia Greenland, Natalie Valle Guzman, Lucy Collins, Simon Stott, Jan Linder, Mona Edström, Jörgen Andersson, Linda Eriksson, Gun‐Marie Hariz, Magdalena Domellöf, Michaela Dreetz Gjerstad, Kenn Freddy Pedersen, Elin Bjelland Forsaa, Veslemøy Hamre Frantzen, Anita Laugaland, Johannes Lange, Karen Simonsen, Eldbjørg Fiske, Ingvild Dalen, Bernd Müller, Geir Olve Skeie, Marit Renså, Wenche Telstad, Aliaksei Labusau, Jane Kastet, Ineke HogenEsch, Marianne Kjerandsen, Liv Kari Håland, Karen Herlofson, Solgunn Ongre, Siri Bruun, David Burn, Lynn Rochester, Gordon W. Duncan, Tien K. Khoo, Kate S. M. Taylor, Robert Caslake, David J. M. McGhee, Diane Swallow, Joanne Gordon, Clare Harris, Ann Hayman, Nicola Johannesson, Hazel Forbes, Valerie Angus, Alasdair Finlayson, David Dawson, Katie Wilde, David Ritchie, Artur Wozniak, Adrian Martin   +72 more
wiley   +1 more source

Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications [PDF]

, 2018
Parkinson disease (PD) is a complex neurodegenerative disease characterised by multiple motor and non-motor symptoms. In the last 20 years, more than 20 genes have been identified as causes of parkinsonism.
Schapira, AHV, Balestrino, R
core   +2 more sources

Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant

Frontiers in Neurology
IntroductionGBA1 variants are significant genetic risk factors for Parkinson’s disease (PD). Accurately measuring glucocerebrosidase (GCase) activity is crucial for understanding disease progression and developing targeted therapies.
Jin Hwangbo, Myung Jun Lee, Myung Jun Lee, Sang Jin Kim, Hyun Kyung Park, Jae-Hyeok Lee, Jae-Hyeok Lee   +6 more
doaj   +1 more source