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Gaucher disease and parkinsonism, a molecular link theory.

Abstract：

:Mutant GBA was found recently to be the most prevalent risk factor for familial parkinsonism. The two diseases do not share common symptoms and there is no direct pathway to explain the mechanism by which GBA mutations can confer the risk. Increased burden on the degradative pathway caused by defective glucocerebrosidase, or toxic side effects of glycosylated lipids accumulation were proposed to explain brain damage. Both hypotheses are not sufficient to explain the linkage. In order to develop a more inclusive theory we introduced into the model the prion theory and the second hit. Other possibilities are also brought into consideration.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Goldin E

doi

10.1016/j.ymgme.2010.08.004

subject

Has Abstract

pub_date

2010-12-01 00:00:00

pages

307-10

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(10)00300-8

journal_volume

101

pub_type

杂志文章

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