{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T01:17:37Z","timestamp":1792113457614,"version":"4.4.0"},"reference-count":159,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T00:00:00Z","timestamp":1674172800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005888","name":"Medical University of Lodz, Poland","doi-asserted-by":"publisher","award":["503\/5-108-05\/503-51-001-19-00"],"award-info":[{"award-number":["503\/5-108-05\/503-51-001-19-00"]}],"id":[{"id":"10.13039\/501100005888","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005888","name":"Medical University of Lodz, Poland","doi-asserted-by":"publisher","award":["2021\/43\/O\/NZ5\/02068"],"award-info":[{"award-number":["2021\/43\/O\/NZ5\/02068"]}],"id":[{"id":"10.13039\/501100005888","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Polish National Science Centre","doi-asserted-by":"publisher","award":["503\/5-108-05\/503-51-001-19-00"],"award-info":[{"award-number":["503\/5-108-05\/503-51-001-19-00"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Polish National Science Centre","doi-asserted-by":"publisher","award":["2021\/43\/O\/NZ5\/02068"],"award-info":[{"award-number":["2021\/43\/O\/NZ5\/02068"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>\u03b1-Synucleinopathies comprise a group of neurodegenerative diseases characterized by altered accumulation of a protein called \u03b1-synuclein inside neurons and glial cells. This aggregation leads to the formation of intraneuronal inclusions, Lewy bodies, that constitute the hallmark of \u03b1-synuclein pathology. The most prevalent \u03b1-synucleinopathies are Parkinson\u2019s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). To date, only symptomatic treatment is available for these disorders, hence new approaches to their therapy are needed. It has been observed that GBA1 mutations are one of the most impactful risk factors for developing \u03b1-synucleinopathies such as PD and DLB. Mutations in the GBA1 gene, which encodes a lysosomal hydrolase \u03b2-glucocerebrosidase (GCase), cause a reduction in GCase activity and impaired \u03b1-synuclein metabolism. The most abundant GBA1 gene mutations are N370S or N409S, L444P\/L483P and E326K\/E365K. The mechanisms by which GCase impacts \u03b1-synuclein aggregation are poorly understood and need to be further investigated. Here, we discuss some of the potential interactions between \u03b1-synuclein and GCase and show how GBA1 mutations may impact the course of the most prevalent \u03b1-synucleinopathies.<\/jats:p>","DOI":"10.3390\/ijms24032044","type":"journal-article","created":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T02:43:29Z","timestamp":1674182609000},"page":"2044","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["GBA1 Gene Mutations in \u03b1-Synucleinopathies\u2014Molecular Mechanisms Underlying Pathology and Their Clinical Significance"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5765-1654","authenticated-orcid":false,"given":"Zuzanna","family":"Granek","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Mazowiecka 5, 92-215 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Barczuk","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Mazowiecka 5, 92-215 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0308-580X","authenticated-orcid":false,"given":"Natalia","family":"Siwecka","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Mazowiecka 5, 92-215 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9206-1203","authenticated-orcid":false,"given":"Wioletta","family":"Rozp\u0119dek-Kami\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Mazowiecka 5, 92-215 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Kucharska","sequence":"additional","affiliation":[{"name":"Department Geriatrics and Social Work, Jesuit University Ignatianum in Cracow, Kopernika 26, 31-501 Cracow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ireneusz","family":"Majsterek","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Mazowiecka 5, 92-215 Lodz, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.3389\/fneur.2019.00363","article-title":"Autonomic Dysfunction in \u03b1-Synucleinopathies","volume":"10","author":"Illigens","year":"2019","journal-title":"Front. 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