Page 19 - OR-1-2

cause autosomal-dominant parkinsonism with pleomorphic mitochondria and activates latent Parkin for mitophagy.
pathology. Neuron. 2004;44(4):601-607. J Cell Biol. 2010;189(2):211-221.
doi: 10.1016/j.neuron.2004.11.005 doi: 10.1083/jcb.200910140
27. Cherian A, Divya KP, Vijayaraghavan A. Parkinson’s 38. Brown SJ, Boussaad I, Jarazo J, et al. PINK1 deficiency
disease - genetic cause. Curr Opin Neurol. 2023;36(4): impairs adult neurogenesis of dopaminergic neurons. Sci
292-301. Rep. 2021;11(1):6617.
doi: 10.1097/WCO.0000000000001167 doi: 10.1038/s41598-021-84278-7
28. Kim H, Park HJ, Choi H, et al. Modeling G2019S-LRRK2 39. Eldeeb MA, Bayne AN, Fallahi A, et al. Tom20 gates PINK1
sporadic Parkinson’s disease in 3D midbrain organoids. Stem activity and mediates its tethering of the TOM and TIM23
Cell Reports. 2019;12(3):518-531. translocases upon mitochondrial stress. Proc Natl Acad Sci U
S A. 2024;121(10):e2313540121.
doi: 10.1016/j.stemcr.2019.01.020
doi: 10.1073/pnas.2313540121
29. Zagare A, Barmpa K, Smajic S, et al. Midbrain organoids
mimic early embryonic neurodevelopment and recapitulate 40. Kano M, Takanashi M, Oyama G, et al. Reduced astrocytic
LRRK2-p.Gly2019Ser-associated gene expression. Am J Hum reactivity in human brains and midbrain organoids with
Genet. 2022;109(2):311-327. PRKN mutations. NPJ Parkinsons Dis. 2020;6(1):33.
doi: 10.1016/j.ajhg.2021.12.009 doi: 10.1038/s41531-020-00137-8
30. Zhou ZD, Saw WT, Ho PG, et al. The role of tyrosine 41. Bus C, Zizmare L, Feldkaemper M, et al. Human
hydroxylase-dopamine pathway in Parkinson’s disease dopaminergic neurons lacking PINK1 exhibit disrupted
pathogenesis. Cell Mol Life Sci. 2022;79(12):599. dopamine metabolism related to vitamin B6 co-factors.
iScience. 2020;23(12):101797.
doi: 10.1007/s00018-022-04574-x
doi: 10.1016/j.isci.2020.101797
31. Su CJ, Feng Y, Liu TT, et al. Thioredoxin-interacting
protein induced α-synuclein accumulation via inhibition of 42. Ahfeldt T, Ordureau A, Bell C, et al. Pathogenic pathways
autophagic flux: Implications for Parkinson’s disease. CNS in early-onset autosomal recessive Parkinson’s disease
Neurosci Ther. 2017;23(9):717-723. discovered using isogenic human dopaminergic neurons.
Stem Cell Reports. 2020;14(1):75-90.
doi: 10.1111/cns.12721
doi: 10.1016/j.stemcr.2019.12.005
32. Foliaki ST, Schwarz B, Groveman BR, et al. Neuronal
excitatory-to-inhibitory balance is altered in cerebral 43. Olgiati S, Quadri M, Fang M, et al. DNAJC6 mutations
organoid models of genetic neurological diseases. Mol Brain. associated with early-onset Parkinson’s disease. Ann Neurol.
2021;14(1):156. 2016;79(2):244-256.
doi: 10.1186/s13041-021-00864-w doi: 10.1002/ana.24553
33. Ohtonen S, Giudice L, Jantti H, et al. Human iPSC-derived 44. Edvardson S, Cinnamon Y, Ta-Shma A, et al. A deleterious
microglia carrying the LRRK2-G2019S mutation show mutation in DNAJC6 encoding the neuronal-specific
a Parkinson’s disease related transcriptional profile and clathrin-uncoating co-chaperone auxilin, is associated with
function. Sci Rep. 2023;13(1):22118. juvenile parkinsonism. PLoS One. 2012;7(5):e36458.
doi: 10.1038/s41598-023-49294-9 doi: 10.1371/journal.pone.0036458
34. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary 45. Wulansari N, Darsono WH, Woo HJ, et al. Neurodevelopmental
early-onset Parkinson’s disease caused by mutations in defects and neurodegenerative phenotypes in human brain
PINK1. Science. 2004;304(5674):1158-1160. organoids carrying Parkinson’s disease-linked dnajc6
mutations. Sci Adv. 2021;7(8):eabb1540.
doi: 10.1126/science.1096284
doi: 10.1126/sciadv.abb1540
35. Lucking CB, Durr A, Bonifati V, et al. Association between
early-onset Parkinson’s disease and mutations in the parkin 46. Abela L, Gianfrancesco L, Tagliatti E, et al. Neurodevelopmental
gene. N Engl J Med. 2000;342(21):1560-1567. and synaptic defects in DNAJC6 Parkinsonism, amenable to
gene therapy. Brain. 2024;147(6):2023-2037.
doi: 10.1056/NEJM200005253422103
doi: 10.1093/brain/awae020
36. Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin is recruited
selectively to impaired mitochondria and promotes their 47. Bonifati V, Rizzu P, Van Baren MJ, et al. Mutations in the
autophagy. J Cell Biol. 2008;183(5):795-803. DJ-1 gene associated with autosomal recessive early-onset
Parkinsonism. Science. 2003;299(5604):256-259.
doi: 10.1083/jcb.200809125
doi: 10.1126/science.1077209
37. Matsuda N, Sato S, Shiba K, et al. PINK1 stabilized by
mitochondrial depolarization recruits parkin to damaged 48. Morrone Parfitt G, Coccia E, Goldman C, et al. Disruption

Volume 1 Issue 2 (2025) 10 doi: 10.36922/OR025040006