Page 53 - Characterization of genetic neurodevelopmental disorders at adult age, with a focus on 22q11.2 deletion syndrome - Emma Boersma

Parkinsonism in GNDs
20. Boot E, Booij J, Zinkstok J, et al. Disrupted dopaminergic neurotransmission in 22q11 deletion
syndrome. Neuropsychopharmacology. May 2008;33(6):1252-8. doi:10.1038/sj.npp.1301508
21. Devaraju P, Zakharenko SS. Mitochondria in complex psychiatric disorders: Lessons from
mouse models of 22q11.2 deletion syndrome: Hemizygous deletion of several mitochondrial
genes in the 22q11.2 genomic region can lead to symptoms associated with neuropsychiatric
disease. Bioessays. Feb 2017;39(2)doi:10.1002/bies.201600177
22. Boot E, Bassett AS, Marras C. 22q11.2 Deletion Syndrome-Associated Parkinson’s Disease.
Mov Disord Clin Pract. Jan 2019;6(1):11-16. doi:10.1002/mdc3.12687
23. Vacca RA, Bawari S, Valenti D, et al. Down syndrome: Neurobiological alterations and therapeutic
targets. Neurosci Biobehav Rev. Mar 2019;98:234-255. doi:10.1016/j.neubiorev.2019.01.001
24. Jiang Y, Sato Y, Im E, et al. Lysosomal Dysfunction in Down Syndrome Is APP-Dependent
and Mediated by APP-βCTF (C99). J Neurosci. Jul 3 2019;39(27):5255-5268. doi:10.1523/
jneurosci.0578-19.2019
25. Valenti D, Tullo A, Caratozzolo MF, et al. Impairment of F1F0-ATPase, adenine nucleotide
translocator and adenylate kinase causes mitochondrial energy deficit in human skin
fibroblasts with chromosome 21 trisomy. Biochem J. Oct 15 2010;431(2):299-310. doi:10.1042/
bj20100581
26. Lanoue V, Chai YJ, Brouillet JZ, et al. STXBP1 encephalopathy: Connecting neurodevelopmental
disorders with alpha-synucleinopathies? Neurology. Jul 16 2019;93(3):114-123. doi:10.1212/
wnl.0000000000007786
27. Jafari P, Braissant O, Bonafé L, Ballhausen D. The unsolved puzzle of neuropathogenesis
in glutaric aciduria type I. Mol Genet Metab. Dec 2011;104(4):425-37. doi:10.1016/j.
ymgme.2011.08.027
28. van der Burgh R, Ter Haar NM, Boes ML, Frenkel J. Mevalonate kinase deficiency, a
metabolic autoinflammatory disease. Clin Immunol. Jun 2013;147(3):197-206. doi:10.1016/j.
clim.2012.09.011
29. Zyss J, Vlaicu M, Gerber S, Rodallec M, Gauthier C, Zuber M. Movement disorders in mevalonic
aciduria. Movement Disorders. 2011;26(SUPPL. 2):S256. 15th International Congress of
Parkinson’s Disease and Movement Disorders. Toronto, ON Canada.
(var.pagings). doi:http://dx.doi.org/10.1002/mds.23764
30. Decressac M, Volakakis N, Björklund A, Perlmann T. NURR1 in Parkinson disease--from
pathogenesis to therapeutic potential. Nat Rev Neurol. Nov 2013;9(11):629-36. doi:10.1038/
nrneurol.2013.209
31. Marin-Valencia I, Roe CR, Pascual JM. Pyruvate carboxylase deficiency: mechanisms, mimics
and anaplerosis. Mol Genet Metab. Sep 2010;101(1):9-17. doi:10.1016/j.ymgme.2010.05.004
32. Kawaguchi K. Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic
paraplegia. Neuroscientist. Aug 2013;19(4):336-44. doi:10.1177/1073858412451655
33. Tang G, Yue Z, Talloczy Z, et al. Autophagy induced by Alexander disease-mutant GFAP
accumulation is regulated by p38/MAPK and mTOR signaling pathways. Hum Mol Genet. Jun
1 2008;17(11):1540-55. doi:10.1093/hmg/ddn042
34. Hor CHH, Tang BL. Beta-propeller protein-associated neurodegeneration (BPAN) as a
genetically simple model of multifaceted neuropathology resulting from defects in autophagy.
Rev Neurosci. Apr 24 2019;30(3):261-277. doi:10.1515/revneuro-2018-0045
35. Xu M, Ouyang Q, Gong J, et al. Mixed Neurodevelopmental and Neurodegenerative Pathology
in Nhe6-Null Mouse Model of Christianson Syndrome. eNeuro. Nov-Dec 2017;4(6)doi:10.1523/
eneuro.0388-17.2017
36. Strømme P, Dobrenis K, Sillitoe RV, et al. X-linked Angelman-like syndrome caused by Slc9a6
knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain : a journal of
neurology. 2011;134(Pt 11):3369-3383. doi:10.1093/brain/awr250
37. Zadori D, Szalardy L, Maszlag-Torok R, et al. Clinicopathological Relationships in an Aged Case
of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene. Frontiers in Neurology.
2020;11:767. doi:http://dx.doi.org/10.3389/fneur.2020.00767
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