Возможная Роль Генов, Связанных С Лизосомными Болезнями Накопления, В Патогенезе Болезни Паркинсона

Rudenok, Margarita M.; Alieva, Anelya Kh.; Николаев, Михаил; Колачева, А. А.; Mv, Ugriumov; Пчелина, С. Н.; Сломинский, П. А.; Шадрина, М. И.

doi:10.1134/s0026898419010142

Cited by 3 publications

(1 citation statement)

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“…HSPA8 is linked to Parkinson’s disease where it is involved in the impairment of lysosomal autophagy. HSPA8 may contribute to lysosomal storage disorders (LSDs) as a functional component of lysosome vesicle biogenesis 46 . A large number of Rab proteins were categorized under Rab-regulated trafficking, membrane trafficking and endocytosis (Supplementary Table 1).…”

Section: Resultsmentioning

confidence: 99%

Cardiac Atrial Compartmentalisation Proteomics: A Modified Density Gradient Method to Analyse Endo-lysosomal Proteins

Ayagama

Bose

Capel

et al. 2021

Preprint

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The importance of lysosomes in cardiac physiology and pathology are well established, and evidence for roles in calcium signalling are emerging. We describe a label-free proteomics method suitable for small cardiac tissue biopsies based on density-separated fractionation, which allows study of endo-lysosomal (EL) proteins. Density gradient fractions corresponding to tissue lysate; sarcoplasmic reticulum (SR), mitochondria (Mito) (1.3 g/ml); and EL with negligible contamination from SR or Mito (1.04 g/ml), were analysed using Western Blot, enzyme activity assay and LC-MS/MS analysis (adapted discontinuous Percoll, and sucrose differential density gradient). Kyoto Encyclopedia of Genes and Genomes, Reactome, Panther and Gene Ontology pathway analysis showed good coverage of RAB proteins and lysosomal cathepsins (including cardiac-specific cathepsin D) in the purified EL fraction. Significant EL proteins recovered included catalytic activity proteins. We thus present a comprehensive protocol and dataset of guinea-pig atrial EL organelle proteomics using techniques also applicable for non-cardiac tissue.

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Section: Resultsmentioning

confidence: 99%

Cardiac Atrial Compartmentalisation Proteomics: A Modified Density Gradient Method to Analyse Endo-lysosomal Proteins

Ayagama

Bose

Capel

et al. 2021

Preprint

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Analysis of DNM2, EPN2 and EXOC4 relative gene expression levels in peripheral blood from Parkinson’s disease patients

Семенова¹,

Rudenok²,

Alieva³

et al. 2021

Mol. genet. mikrobiol. virusol.

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Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity

Usenko

Bezrukova

Rudenok

et al. 2023

IJMS

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Mutations in the GBA1 gene represent the major genetic risk factor for Parkinson’s disease (PD). The lysosomal enzyme beta-glucocerebrosidase (GCase) encoded by the GBA1 gene participates in both the endolysosomal pathway and the immune response. Disruption of these mechanisms is involved in PD pathogenesis. However, molecular mechanisms of PD associated with GBA1 mutations (GBA-PD) are unknown today in particular due to the partial penetrance of GBA1 variants in PD. The modifiers of GBA1 penetrance have not been elucidated. We characterized the transcriptomic profiles of cells from the substantia nigra (SN) of mice with co-injection with 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and selective inhibitor of GCase activity (conduritol-β-epoxide, (CBE)) to mimic PD bearing GCase dysfunction (MPTP+CBE), mice treated with MPTP, mice treated with CBE and control mice treated with injection of sodium chloride (NaCl) (vehicle). Differential expression analysis, pathway enrichment analysis, and outlier detection were performed. Functional clustering of differentially represented transcripts revealed more processes associated with the functioning of neurogenesis, inflammation, apoptosis and autophagy in MPTP+CBE and MPTP mice than in vehicle mice, with a more pronounced alteration of autophagy processes in MPTP+CBE mice than in MPTP mice. The PI3K-Akt-mTOR signaling pathway may be considered a potential target for therapy in PD with GCase dysfunction.

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Возможная Роль Генов, Связанных С Лизосомными Болезнями Накопления, В Патогенезе Болезни Паркинсона

Cited by 3 publications

References 0 publications

Cardiac Atrial Compartmentalisation Proteomics: A Modified Density Gradient Method to Analyse Endo-lysosomal Proteins

Cardiac Atrial Compartmentalisation Proteomics: A Modified Density Gradient Method to Analyse Endo-lysosomal Proteins

Analysis of DNM2, EPN2 and EXOC4 relative gene expression levels in peripheral blood from Parkinson’s disease patients

Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity

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