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Aleksandar Rakovic

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Articles 53
Citations 1401
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Recent Articles
1.
Tanzer K, Meier B, Vulinovic F, Pawlack H, Klein C, Seibler P, et al.
Stem Cell Res . 2024 Nov; 81:103595. PMID: 39490211
A 3-bp deletion (ΔGAG) in TOR1A is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four...
2.
Seibler P, Rakovic A
Med Genet . 2024 Jun; 34(2):125-130. PMID: 38835901
Movement disorders comprise a clinically, pathologically, and genetically heterogeneous group of diseases associated with the phenomenon of reduced penetrance. Penetrance refers to the likelihood that a clinical condition will occur...
3.
Kluge A, Borsche M, Streubel-Gallasch L, Gul T, Schaake S, Balck A, et al.
Ann Neurol . 2024 Mar; 95(6):1173-1177. PMID: 38546204
Pathogenic variants in PRKN cause early-onset Parkinson's disease (PD), while the role of alpha-synuclein in PRKN-PD remains uncertain. One study performed a blood-based alpha-synuclein seed amplification assay (SAA) in PRKN-PD,...
4.
Gomez Ramos B, Ohnmacht J, de Lange N, Valceschini E, Ginolhac A, Catillon M, et al.
EMBO Rep . 2024 Jan; 25(1):254-285. PMID: 38177910
Midbrain dopaminergic neurons (mDANs) control voluntary movement, cognition, and reward behavior under physiological conditions and are implicated in human diseases such as Parkinson's disease (PD). Many transcription factors (TFs) controlling...
5.
Gallinat A, Rakovic A, Klein C, Badimon L
Free Radic Biol Med . 2022 Nov; 193(Pt 1):430-436. PMID: 36341940
The early-onset Parkinson's disease protein DJ-1 is a multifunctional protein that plays a protective role against ischemia and reperfusion (I/R) injury and oxidative stress. Despite lacking a canonical RNA-binding domain...
6.
Diaw S, Ganos C, Zittel S, Plotze-Martin K, Kulikovskaja L, Vos M, et al.
Int J Mol Sci . 2022 Sep; 23(17). PMID: 36076926
Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) caused by loss-of-function variants in WDR45. The underlying mechanism of iron accumulation in WDR45 deficiency remains...
7.
Reyes C, Asano K, Todd P, Klein C, Rakovic A
Mov Disord . 2022 Aug; 37(11):2284-2289. PMID: 35971992
Background: X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder caused by the intronic insertion of a SINE-VNTR-Alu (SVA) retrotransposon carrying an (AGAGGG) repeat expansion in the TAF1 gene. The molecular mechanisms...
8.
Wasner K, Smajic S, Ghelfi J, Delcambre S, Prada-Medina C, Knappe E, et al.
Mov Disord . 2022 Apr; 37(7):1405-1415. PMID: 35460111
Background: Mutations in the E3 ubiquitin ligase parkin cause autosomal recessive Parkinson's disease (PD). Together with PTEN-induced kinase 1 (PINK1), parkin regulates the clearance of dysfunctional mitochondria. New mitochondria are...
9.
Rakovic A, Voss D, Vulinovic F, Meier B, Hellberg A, Nau C, et al.
Front Cell Neurosci . 2022 Apr; 16:817198. PMID: 35401116
Induced pluripotent stem cell (iPSC)-based generation of tyrosine hydroxylase-positive (TH) dopaminergic neurons (DNs) is a powerful method for creating patient-specific models to elucidate mechanisms underlying Parkinson's disease (PD) at the...
10.
Krajka V, Vulinovic F, Genova M, Tanzer K, Jijumon A, Bodakuntla S, et al.
Sci Adv . 2022 Mar; 8(10):eabj9229. PMID: 35275727
Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Currently,...