GBA1 Gene Mutations in -SynucleinopathiesMolecular Mechanisms Underlying Pathology and Their Clinical Significance
Description
- Tytuł: GBA1 Gene Mutations in -SynucleinopathiesMolecular Mechanisms Underlying Pathology and Their Clinical Significance
- Autor/Autorzy:
- Nazwa czasopisma: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Rok: 2023
- Tom: 24
- Numer: 2044
- ISSN: 1422-0067
- e-ISSN: 1422-0067
- DOI: 10.3390/ijms24032044
- Adres www:: https://www.mdpi.com/1422-0067/24/3/2044/pdf
- Strony od-do: 1-21
- Abstrakt: Abstract: α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by altered accumulation of a protein called α-synuclein inside neurons and glial cells. This aggregation leads to the formation of intraneuronal inclusions, Lewy bodies, that constitute the hallmark of α-synuclein pathology. The most prevalent α-synucleinopathies are Parkinson’s 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 α-synucleinopathies such as PD and DLB. Mutations in the GBA1 gene, which encodes a lysosomal hy[1]drolase β-glucocerebrosidase (GCase), cause a reduction in GCase activity and impaired α-synuclein metabolism. The most abundant GBA1 gene mutations are N370S or N409S, L444P/L483P and E326K/E365K. The mechanisms by which GCase impacts α-synuclein aggregation are poorly un[1]derstood and need to be further investigated. Here, we discuss some of the potential interactions between α-synuclein and GCase and show how GBA1 mutations may impact the course of the most prevalent α-synucleinopathies
- Dyscyplina: nauki medyczne
MARC
- 002 $a GBA1 Gene Mutations in -SynucleinopathiesMolecular Mechanisms Underlying Pathology and Their Clinical Significance
- 003 $b 0000-0001-8757-6958
- 003 $a EWA KUCHARSKA (Autor)
- 003 $a Ireneusz Majsterek (Autor)
- 003 $a Julia Barczuk (Autor)
- 003 $a Natalia Siwecka (Autor)
- 003 $a Wioletta Rozpędek- Kamińska (Autor)
- 003 $a Zuzanna Granek (Autor)
- 004 $a Oryginalny artykuł naukowy
- 006 $a INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- 008 $a 2023
- 009 $a 24
- 010 $a 2044
- 011 $a 1422-0067
- 012 $a 1422-0067
- 013 $a 10.3390/ijms24032044
- 014 $a https://www.mdpi.com/1422-0067/24/3/2044/pdf
- 015 $a 1-21
- 020 $a Abstract: α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by altered accumulation of a protein called α-synuclein inside neurons and glial cells. This aggregation leads to the formation of intraneuronal inclusions, Lewy bodies, that constitute the hallmark of α-synuclein pathology. The most prevalent α-synucleinopathies are Parkinson’s 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 α-synucleinopathies such as PD and DLB. Mutations in the GBA1 gene, which encodes a lysosomal hy[1]drolase β-glucocerebrosidase (GCase), cause a reduction in GCase activity and impaired α-synuclein metabolism. The most abundant GBA1 gene mutations are N370S or N409S, L444P/L483P and E326K/E365K. The mechanisms by which GCase impacts α-synuclein aggregation are poorly un[1]derstood and need to be further investigated. Here, we discuss some of the potential interactions between α-synuclein and GCase and show how GBA1 mutations may impact the course of the most prevalent α-synucleinopathies
- 022 $a dementia with Lewy bodies
- 022 $a Gaucher’s disease
- 022 $a GBA1 mutations
- 022 $a glucocerebrosidase
- 022 $a glycosylceramidase
- 022 $a multiple system atrophy
- 022 $a Parkinson’s disease
- 022 $a α-Synuclein
- 022 $a α-synucleinopathies
- 966 $a nauki medyczne
- 985 $a Wydział Pedagogiczny
- 985 $b Instytut Nauk o Wychowaniu
Dublin Core
Indexes
- Title: GBA1 Gene Mutations in -SynucleinopathiesMolecular Mechanisms Underlying Pathology and Their Clinical Significance
- Author:
- Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Date: 2023
- Discipline: nauki medyczne
- Słowa kluczowe w j. angielskim:
- Structure: