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ProteomicsSpastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation
Hereditary Spastic Paraplegia (HSP) is a neurodegenerative disease most commonly caused by autosomal dominant mutations in the SPG4 gene encoding the microtubule severing protein spastin. We hypothesise that SPG4-HSP is attributable to reduced spastin function due to haploinsufficiency, thus therape...
ORGANISM(S): Bos taurus (Bovine) Homo sapiens (Human) 
2020-10-22 | PXD021945 | Pride
Ubiquitination Spastin Hipk2 Spg4-hsp Protesomal degradation 
ProteomicsmTOR inhibition ameliorates tau burden and neurofilament pathology in sporadic PSP-RS neurons
Progressive supranuclear palsy, Richardson’s syndrome subtype (PSP-RS), is a tauopathy marked by early axonal pathology and neurodegeneration. Modeling sporadic PSP-RS in human neurons remained a major challenge. Here, we generated midbrain dopaminergic (mDA) neurons from induced pluripotent stem ce...
ORGANISM(S): Homo sapiens (Human) 
2026-06-08 | PXD072104 | Pride
Tauopathy  progressive supranuclear palsy  neurofilament  dopaminergic neurons  axonal degeneration  autophagy modulation 
UnknownEmpyema caused by Prevotella bivia complicating an unusual case of spontaneous chylothorax.
Not available
S-EPMC3993466 | biostudies-literature
GenomicsCIDR Whole Exome Sequencing in Joubert Syndrome

The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum. Joubert syndrome is a recessive disease characterized by cerebellar vermis hypoplasia. Our currently funded NINDS award entitled "Molecular characterization of ...

phs000382.v1.p1 | EGA
UnknownSecond-line therapy in pancreatic ductal adenocarcinoma (PDAC) patients with germline BRCA1-2 pathogenic variants (gBRCA1-2pv).
Not available
S-EPMC9977912 | biostudies-literature
UnknownCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Not available
S-EPMC1950920 | biostudies-literature
UnknownProtective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.
Not available
S-EPMC8073081 | biostudies-literature
UnknownA homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Not available
S-EPMC10519206 | biostudies-literature
UnknownCharacteristics, management, and outcomes of patients with left-sided infective endocarditis complicated by heart failure: a substudy of the ESC-EORP EURO-ENDO (European infective endocarditis) registry.
Not available
S-EPMC9543970 | biostudies-literature
UnknownEfficacy of n-3 polyunsaturated fatty acids and feasibility of optimizing preventive strategies in patients at high cardiovascular risk: rationale, design and baseline characteristics of the Rischio and Prevenzione study, a large randomised trial in general practice.
Not available
S-EPMC2909229 | biostudies-literature
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