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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 
ProteomicsStructural obstruction to full DNA replication in the chromatin of terminally differentiated skeletal muscle cells
Terminal cell differentiation is often associated with permanent withdrawal from proliferation, termed the postmitotic state. Though widespread among vertebrates and determinant for their biology, the molecular underpinnings of this state are poorly understood. Postmitotic skeletal muscle myotubes c...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2025-01-13 | MSV000096839 | MassIVE
UnknownGenomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement.
Not available
S-EPMC8742810 | biostudies-literature
TranscriptomicsLinking genomic lesions with minimal residual disease improves prognostic stratification in children with T-cell acute lymphoblastic leukaemia
GEP class prediction in association with CI-FISH (42 candidate genes) and patient MRD stratification Combined Interphase FISH (CI-FISH) for 42 candidate genes and Single Nucleotide Polymorphism (SNP) arrays were applied in a series of 51 T-ALL patients enrolled in Italy into the AIEOP-BFM ALL2000 pr...
ORGANISM(S): Homo sapiens 
2013-11-05 | E-GEOD-39816 | biostudies-arrayexpress
UnknownThe Diagnostic and Prognostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy.
Not available
S-EPMC12141911 | biostudies-literature
UnknownCardiac involvement at presentation in patients hospitalized with COVID-19 and their outcome in a tertiary referral hospital in Northern Italy.
Not available
S-EPMC7505942 | biostudies-literature
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