[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 …
were identified in patients with frontotemporal lobar degeneration (FTLD) almost two …
Mass spectrometry-based techniques to elucidate the sugar code
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 …
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 …
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 …
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
Gaucher disease, the most prevalent lysosomal storage disease, is caused by homozygous
mutations at the GBA gene, which is responsible for encoding the enzyme …
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 …
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 …
metabolizing the glycosphingolipid glucosylceramide (GlcCer) to ceramide and glucose …
Marine biocompounds for neuroprotection—A review
While terrestrial organisms are the primary source of natural products, recent years have
witnessed a considerable shift towards marine-sourced biocompounds. They have achieved …
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) …
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 …
disease, but the most recent guideline was published in 2013. Since then, there have been …