The endosomal pathway in Parkinson's disease.
Oxford, United Kingdom. In Mol Cell Neurosci, 19 Mar 2015
In this review, we summarized the evidence that a number of Parkinson's associated genetic mutations or polymorphisms (LRRK2, VPS35, GBA, ATP13A2, ATP6AP2, DNAJC13/RME-8, RAB7L1, GAK) disrupt protein trafficking and degradation via the endosomal pathway and discussed how such defects could arise from or contribute to the accumulation and misfolding of α-synuclein in Lewy bodies.
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Bordeaux, France. In J Peripher Nerv Syst, Dec 2014
Rarely, an association of parkinsonism with PN may be encountered in other neurodegenerative diseases such as fragile X-associated tremor and ataxia syndrome related to premutation CGG repeat expansion in the fragile X mental retardation (FMR1) gene, Machado-Joseph disease related to an abnormal CAG repeat expansion in ataxin-3 (ATXN3) gene, Kufor-Rakeb syndrome caused by mutations in ATP13A2 gene, or in hereditary systemic disorders such as Gaucher disease due to mutations in the β-glucocerebrosidase (GBA) gene and Chediak-Higashi syndrome due to LYST gene mutations.
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
Milano, Italy. In Front Pharmacol, 2013
In the other forms the connection with iron metabolism is not evident at all and the genetic data let infer the involvement of other pathways: Pank2, Pla2G6, C19orf12, COASY, and FA2H genes seem to be related to lipid metabolism and to mitochondria functioning, WDR45 and ATP13A2 genes are implicated in lysosomal and autophagosome activity, while the C2orf37 gene encodes a nucleolar protein of unknown function.
Manganese and the brain.
London, United Kingdom. In Int Rev Neurobiol, 2012
While a number of proteins such as the divalent metal transporter 1, the transferrin/transferrin receptor complex, the ZIP family metal transporters ZIP-8 and ZIP-14, the secretory pathway calcium ATPases SPCA1 and SPCA2, ATP13A2, and ferroportin have been suggested to play a role in Mn transport, the degree that each of them contributes to Mn homeostasis has still to be determined.