Research LettersHomozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism
References (5)
- et al.
Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region
Am J Hum Genet
(1998) - et al.
Chromosome 6-linked autosomal recessive early-onset parkinsonism: linkage in european and algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family
Am J Hum Genet
(1998)
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2022, Biomedicine and PharmacotherapyCitation Excerpt :Glucocerebrosidase gene mutations, primarily parkin (also known as PRKN or PARK2), PINK1 (also known as PARK6), and DJ-1 (also known as PARK7), can result in modified lysosomal enzymes that hamper the lysosomal-autophagy pathway, and thereby elevate α-synuclein aggregate formation [152]. PRKN and PINK1 are the most commonly mutated gene in PD, and several mutations of these gene have been uncovered [131,153–163]. The third majorly responsible mutation, DJ-1, shares phenotypic features with the previous two, although this mutation is rarer [131,164–167].
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2021, MitochondrionCitation Excerpt :Different studies have further proposed that small fraction of α-syn also resides inside mitochondria and affect the action of complex I enzyme and thus behaves as a significant cause of sporadic PD (Devi et al., 2008; Loeb et al., 2010; Nakamura et al., 2008). In the form of small fibrils, it is suggested to trigger the mitochondrial fragmentation (Kamp et al., 2010; Lücking et al., 1998; Nakamura et al., 2011) and it is evident by distorted mitochondrial morphology and excessive ROS generation in brain of α-syn transgenic mice (Martin et al., 2006). These processes consequently lead to excessive mitophagy causing mitochondrial elimination and neuronal death (Choubey et al., 2011).
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