α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases
Thai Leong Yap,James M. Gruschus,Arash Velayati,Wendy Westbroek,Ehud Goldin,Nima Moaven,Ellen Sidransky,Jennifer C. Lee +7 more
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TLDR
It is suggested that the α-syn-GCase association is favored in the lysosome, and that this noncovalent interaction provides the groundwork to explore molecular mechanisms linking PD with mutant GBA alleles.About:
This article is published in Journal of Biological Chemistry.The article was published on 2011-08-12 and is currently open access. It has received 172 citations till now. The article focuses on the topics: Glucocerebrosidase & Lysosome.read more
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Journal ArticleDOI
The link between the GBA gene and parkinsonism
Ellen Sidransky,Grisel Lopez +1 more
TL;DR: Identification of the pathological mechanisms underlying GBA-associated parkinsonism will improve the understanding of the genetics, pathophysiology, and treatment for both rare and common neurological diseases.
Journal ArticleDOI
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
Matthew E. Gegg,Derek Burke,Derek Burke,Simon J.R. Heales,Simon J.R. Heales,J. Mark Cooper,John Hardy,Nicholas W. Wood,Anthony H.V. Schapira +8 more
TL;DR: This work investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains.
Journal ArticleDOI
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Jérôme Stirnemann,Nadia Belmatoug,Fabrice Camou,Christine Serratrice,Roseline Froissart,Catherine Caillaud,Thierry Levade,Leonardo Astudillo,Jacques Serratrice,Anaïs Brassier,Christian Rose,Thierry Billette de Villemeur,Marc G. Berger +12 more
TL;DR: Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3.
Journal ArticleDOI
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.
Karen E. Murphy,Karen E. Murphy,Amanda M. Gysbers,Sarah K. Abbott,Sarah K. Abbott,Nahid Tayebi,Woojin S. Kim,Woojin S. Kim,Ellen Sidransky,Anthony Cooper,Anthony Cooper,Brett Garner,Brett Garner,Glenda M. Halliday,Glenda M. Halliday +14 more
TL;DR: Glucocerebrosidase deficits in sporadic Parkinson's disease are related to the abnormal accumulation of α-synuclein and are associated with substantial alterations in lysosomal chaperone-mediated autophagy pathways and lipid metabolism.
Journal ArticleDOI
Pathological roles of α-synuclein in neurological disorders
Kostas Vekrellis,Maria Xilouri,Evangelia Emmanouilidou,Hardy J. Rideout,Leonidas Stefanis,Leonidas Stefanis +5 more
TL;DR: Factors that regulate the levels, post-translational modifications, specific aberrant cellular effects, or secretion of α-synuclein might be targets for therapy, and this extracellular form could lead to the spread of pathological accumulations and disease progression.
References
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TL;DR: Mutations in the newly identified gene appear to be responsible for the pathogenesis of Autosomal recessive juvenile parkinsonism, and the protein product is named ‘Parkin’.
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