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GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. 

Senkevich K, Zorca CE, Dworkind ARudakou USomerville EYu E, Ermolaev A, Nikanorova D, Ahmad JRuskey JAAsayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN and Gan-Or ZGALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s diseaseBrain. 2022. Preprint, PubMed

TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletions

Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MAGan-Or Z, Rouleau GA, Lyulcheva-Bennett K, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński L, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Akdemir ZHC, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV and Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletionsAmerican Journal of Human Genetics. 2022. PubMed

Genome-wide contribution of common Short-Tandem Repeats to Parkinson’s Disease genetic risk.

Bustos BI, Billingsley K, Blauwendraat C, Gibbs JR, Gan-Or Z, Krainc D, Singleton AB and Lubbe SJ. Genome-wide contribution of common Short-Tandem Repeats to Parkinson’s Disease genetic riskBrain. 2022. Preprint, PubMed

Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson’s disease cohorts of European descent. 

Hu J, Waters CH, Spiegelman D, Fon EA, Yu EAsayesh FKrohn LSaini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B, Bustos BI and Lubbe SJ. Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson’s disease cohorts of European descentNeurrobiology of Aging. 2022. Preprint, PubMed

BiP  inactivation  due  to  loss  of  the  deAMPylation  function  of  FICD  causes  a motor neuron disease.

Rebelo AP, Ruiz A, Dohrn M, Wayand M, Danzi M, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau GA, Estiar MA, Van der Vondel L, Gan-Or Z, Baets J, Schule R and Zuchner S. BiP  inactivation  due  to  loss  of  the  deAMPylation  function  of  FICD  causes  a motor neuron diseaseGenetics in Medicine. 2022. PubMed

No Association Between Rare TWNK Variants and Parkinson’s Disease in European Cohorts.

Senkevich K and Gan-Or ZNo Association Between Rare TWNK Variants and Parkinson’s Disease in European CohortsMovement Disorders. 2022. (letter). PubMed

BA1 and The Immune System – A Potential Role in Parkinson’s Disease?

Al-Azzawi ZAM, Arfaie S and Gan-Or ZGBA1 and The Immune System – A Potential Role in Parkinson’s Disease?Journal of Parkinson’s Disease. 2022. PubMed

Alzheimer’s disease polygenic risk score is not associated with cognitive decline among older adults with type 2 diabetes.

Greenbaum L, Manzali S, Yu E, Ravona-Springer R, Livny A, Golan S, Ouyang Y, Lesman-Segev O, Ganmore I, Alkelai A, Gan-Or Z, Lin HM, Heymann A and Schnaider Beeri M. Alzheimer’s disease polygenic risk score is not associated with cognitive decline among older adults with type 2 diabetesFrontiers in Aging Neuroscience. 2022. PubMed

Effect modification between genes and environment, and Parkinson’s disease risk.

Periñán MT, Brolin K, Bandres-Ciga S, Blauwendraat C, Klein C, Gan-Or Z, Singleton A, Garre PG, Swanberg M, Mir P and Noyce A. Effect modification between genes and environment, and Parkinson’s disease riskAnnals of Neurology. 2022. PubMed

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes. 

Bowles KR, Pugh DP, Farrell K, Han N, TCW J, Liu Y, Liang SA, Qian L, Bendl J, Fullard JF, Renton AE, Casella A, Iida MA, Bandres-Ciga S, Gan-Or Z, Heutink P, Siitonen A, Bertelsen S, Karch C, Frucht S, Kopell BH, Peter I, Park YJ, Crane P, Kauwe JSK, Boehme KL, Hoglinger GU, Charney AW, Roussos P, Wang JC, Poon WW, Raj T, Crary JF and Goate AM. 17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes. Molecular Neurodegeneration. 2022. PubMed, Preprint