Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]
, 2019 Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E +12 more
core
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
FEBS Open Bio, EarlyView.Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane +11 more
wiley +1 more source
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources
FEBS Open Bio, EarlyView.UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová +2 more
wiley +1 more source
When, where and how? Focus on neuronal calcium dysfunctions in Alzheimer's Disease. [PDF]
, 2016 Alzheimer\u2019s disease (AD), since its characterization as a precise form of dementia with its own pathological hallmarks, has captured scientists\u2019 attention because of its complexity.
AGOSTINI, MARIO, FASOLATO, CRISTINA
core +1 more source
Lysosomal storage disease overview [PDF]
Annals of Translational Medicine, 2018 The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
openaire +2 more sources
Cutaneous Melanoma Drives Metabolic Changes in the Aged Bone Marrow Immune Microenvironment
Aging and Cancer, EarlyView.Melanoma, the deadliest form of skin cancer, increasingly affects older adults. Our study reveals that melanoma induces changes in iron and lipid levels in the bone marrow, impacting immune cell populations and increasing susceptibility to ferroptosis.
Alexis E. Carey +12 more
wiley +1 more source
Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]
, 2019 There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J +4 more
core +2 more sources
Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. [PDF]
, 2016 Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterised by dystonia, parkinsonism and spasticity. Iron accumulates in the basal ganglia and may be accompanied by Lewy bodies, axonal swellings and hyperphosphorylated ...
Adibhatla +148 more
core +1 more source