Results 61 to 70 of about 10,389 (214)

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

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

Neurodegenerative Diseases: Epidemiology, Risk Factors, Classification, Pathophysiology, Clinical Features, Diagnosis, and Therapeutic Strategies

MedComm, Volume 7, Issue 11, November 2026.
Neurodegenerative diseases share convergent risk architectures and pathological mechanisms, yet diverge in selective vulnerability, clinical presentation, and therapeutic responsiveness. This review integrates cross‐disease epidemiology, pathophysiology, diagnosis, and treatment, highlighting the transition from symptomatic care toward biomarker‐guided
Zimeng He, Jingjing Zeng, Guoqing Wang, Yuxin Li, Feng Zhang   +4 more
wiley   +1 more source

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

Autophagic- and Lysosomal-Related Biomarkers for Parkinson’s Disease: Lights and Shadows

Cells, 2019
Parkinson’s disease (PD) is a neurodegenerative disorder that currently affects 1% of the population over the age of 60 years, for which no disease-modifying treatments exist.
Helena Xicoy, Núria Peñuelas, Miquel Vila, Ariadna Laguna   +3 more
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

Gastric Cancer: Epidemiology, Risk Factors, Pathogenesis, Clinical Features, Diagnosis, and Management

MedComm, Volume 7, Issue 11, November 2026.
This comprehensive review summarizes gastric cancer epidemiology, multifactorial risk factors (like infectious, dietary, genetic), pathogenesis such as precancerous evolution, molecular alterations, and a focus on the bidirectional interactions between gastric cancer cells and macrophages in the tumor microenvironment.
Yixuan Xin, Xingya Wang, Yangtao Wu, Qian Liu, Qian Ren, Hui Wang, Jingbo Zhai   +6 more
wiley   +1 more source