Proteomics analysis of the p.G849D variant in neurexin 2 alpha may reveal insight into Parkinson's disease pathobiology

Article Neurosciences

Synaptic proteostasis in Parkinson's disease

Eliana Nachman et al.

Summary: This review discusses recent data on the role of synaptic protein homeostasis in Parkinson's disease, suggesting that disturbed synaptic proteostasis is an early driver of neurodegeneration in the disease.

CURRENT OPINION IN NEUROBIOLOGY (2022)

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Article Biochemistry & Molecular Biology

Dysregulated Gene Expression in Lymphoblasts from Parkinson's Disease

Sarah Jane Annesley et al.

Summary: Parkinson's disease is the second largest neurodegenerative disease worldwide, caused by genetics and environment. It affects multiple tissues and organs, not just the brain. Studying accessible tissues like skin and blood has increased our understanding of the disease. In this study, lymphoblast cell lines were used to analyze the transcriptomes and proteomes of Parkinson's disease patients and healthy controls. The results showed downregulation of genes related to protein synthesis, upregulation of immune processes and sphingolipid metabolism, and an uncoupling of mRNA and protein expression in mitochondrial respiration processes.

PROTEOMES (2022)

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Article Biochemistry & Molecular Biology

UniProt: the universal protein knowledgebase in 2021

Alex Bateman et al.

Summary: The UniProt Knowledgebase aims to provide users with a comprehensive, high-quality set of protein sequences annotated with functional information. Updates over the past two years have increased the number of sequences to approximately 190 million, with new methods to assess proteome completeness and quality. UniProtKB has responded to the COVID-19 pandemic by expertly curating relevant entries and making them rapidly available through a dedicated portal.

NUCLEIC ACIDS RESEARCH (2021)

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Review Cell Biology

The cell biology of Parkinson's disease

Nikhil Panicker et al.

Summary: Parkinson's disease is a progressive neurodegenerative disorder caused by the death of dopamine neurons in the substantia nigra pars compacta. Genes involved in rare, inheritable forms of PD, such as PARK genes, encode proteins that play key roles in the pathology and neuroprotective mechanisms of the disease. Understanding the cellular and non-cell-autonomous pathways involved in PD is crucial for developing therapies to slow or halt its progression.

JOURNAL OF CELL BIOLOGY (2021)

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Article Multidisciplinary Sciences

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools

Boiketlo Sebate et al.

Summary: This study utilized WES to identify a potential pathogenic mutation in a South African family with autosomal dominant PD, finding that a variant in NRXN2 may be the causal gene for the disease. The research showed destabilizing effects of the variant on protein structure, with NAG contributing to restoration of mutant NRXN2's structural stability.

PLOS ONE (2021)

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Article Biochemistry & Molecular Biology

KEGG: integrating viruses and cellular organisms

Minoru Kanehisa et al.

Summary: KEGG is a curated resource integrating eighteen databases categorized into systems, genomic, chemical and health information, providing mapping tools for understanding cellular and organism-level functions from genome sequences and other molecular datasets. The network variation maps in the KEGG database show how different pathogens and environmental factors influence cellular signaling pathways.

NUCLEIC ACIDS RESEARCH (2021)

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Article Biochemistry & Molecular Biology