[HTML][HTML] Lysosomal functions of progranulin and implications for treatment of frontotemporal dementia

MJ Simon, T Logan, SL DeVos, G Di Paolo - Trends in Cell Biology, 2023 - cell.com
Loss-of-function heterozygous mutations in GRN, the gene encoding progranulin (PGRN),
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …

Mass spectrometry-based techniques to elucidate the sugar code

M Grabarics, M Lettow, C Kirschbaum, K Greis… - Chemical …, 2021 - ACS Publications
Cells encode information in the sequence of biopolymers, such as nucleic acids, proteins,
and glycans. Although glycans are essential to all living organisms, surprisingly little is …

The Role of Cholesterol in α‐Synuclein and Lewy Body Pathology in GBA1 Parkinson's Disease

P García‐Sanz, J MFG Aerts… - Movement Disorders, 2021 - Wiley Online Library
Parkinson's disease (PD) is a progressive neurodegenerative disease where dopaminergic
neurons in the substantia nigra are lost, resulting in a decrease in striatal dopamine and …

Value of glucosylsphingosine (Lyso-Gb1) as a biomarker in Gaucher disease: a systematic literature review

S Revel-Vilk, M Fuller, A Zimran - International journal of molecular …, 2020 - mdpi.com
The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an
autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact …

[HTML][HTML] Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model

HBD Duffy, C Byrnes, H Zhu, G Tuymetova… - JCI …, 2024 - pmc.ncbi.nlm.nih.gov
Gaucher disease, the most prevalent lysosomal storage disease, is caused by homozygous
mutations at the GBA gene, which is responsible for encoding the enzyme …

The unique phenotype of lipid-laden macrophages

M van Eijk, JMFG Aerts - International journal of molecular sciences, 2021 - mdpi.com
Macrophages are key multi-talented cells of the innate immune system and are equipped
with receptors involved in damage and pathogen recognition with connected immune …

Glucocerebrosidase: functions in and beyond the lysosome

DEC Boer, J van Smeden, JA Bouwstra… - Journal of clinical …, 2020 - mdpi.com
Glucocerebrosidase (GCase) is a retaining β-glucosidase with acid pH optimum
metabolizing the glycosphingolipid glucosylceramide (GlcCer) to ceramide and glucose …

Marine biocompounds for neuroprotection—A review

AF Bălașa, C Chircov, AM Grumezescu - Marine Drugs, 2020 - mdpi.com
While terrestrial organisms are the primary source of natural products, recent years have
witnessed a considerable shift towards marine-sourced biocompounds. They have achieved …

A Biomarker Study in Patients with GBA1‐Parkinson's Disease and Healthy Controls

JM den Heijer, VC Cullen, DR Pereira… - Movement …, 2023 - Wiley Online Library
Background Molecules related to glucocerebrosidase (GCase) are potential biomarkers for
development of compounds targeting GBA1‐associated Parkinson's disease (GBA‐PD) …

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus

PS Kishnani, W Al-Hertani, M Balwani… - Molecular Genetics and …, 2022 - Elsevier
Several guidelines are available for identification and management of patients with Gaucher
disease, but the most recent guideline was published in 2013. Since then, there have been …