TY  - JOUR
AU  - Messerschmidt, Clemens
AU  - Foddis, Marco
AU  - Blumenau, Sonja
AU  - Müller, Susanne
AU  - Bentele, Kajetan
AU  - Holtgrewe, Manuel
AU  - Kun-Rodrigues, Celia
AU  - Alonso, Isabel
AU  - do Carmo Macario, Maria
AU  - Morgadinho, Ana Sofia
AU  - Velon, Ana Graça
AU  - Santo, Gustavo
AU  - Santana, Isabel
AU  - Mönkäre, Saana
AU  - Kuuluvainen, Liina
AU  - Schleutker, Johanna
AU  - Pöyhönen, Minna
AU  - Myllykangas, Liisa
AU  - Senatore, Assunta
AU  - Berchtold, Daniel
AU  - Winek, Katarzyna
AU  - Meisel, Andreas
AU  - Pavlović, Aleksandra
AU  - Kostić, Vladimir
AU  - Dobricic, Valerija
AU  - Lohmann, Ebba
AU  - Hanagasi, Hasmet
AU  - Guven, Gamze
AU  - Bilgic, Basar
AU  - Bras, Jose
AU  - Guerreiro, Rita
AU  - Beule, Dieter
AU  - Dirnagl, Ulrich
AU  - Sassi, Celeste
PY  - 2021
PY  - 2021
UR  - https://www.nature.com/articles/s41598-021-84919-x
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/5024
AB  - Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechanism, such as the recruitment of brain collateral arteries like posterior communicating arteries (PcomAs), remains unknown. Therefore, we applied exome and genome sequencing in a multi-ethnic cohort of 180 early-onset independent familial and apparently sporadic brain small vessel ischemic disease and CADASIL-like Caucasian patients from US, Portugal, Finland, Serbia and Turkey and in 2 C57BL/6J stroke mouse models (bilateral common carotid artery stenosis [BCCAS] and middle cerebral artery occlusion [MCAO]), characterized by different degrees of PcomAs patency. We report 3 very rare coding variants in the small vessel ischemic disease-CADASIL-like cohort (p.Glu198Gln, p.Arg204Gly, p.Val251Leu) and a stop-gain mutation (p.Gln273*) in one MCAO mouse. These coding variants do not cluster in PHACTR1 known pathogenic domains and are not likely to play a critical role in small vessel ischemic disease or brain collateral circulation. We also exclude the possibility that copy number variants (CNVs) or a variant enrichment in Phactr1 may be associated with PcomA recruitment in BCCAS mice or linked to diverse vascular traits (cerebral blood flow pre-surgery, PcomA size, leptomeningeal microcollateral length and junction density during brain hypoperfusion) in C57BL/6J mice, respectively. Genetic variability in PHACTR1 is not likely to be a common susceptibility factor influencing small vessel ischemic disease in patients and PcomA recruitment in C57BL/6J mice. Nonetheless, rare variants in PHACTR1 RPEL domains may influence the stroke outcome and are worth investigating in a larger cohort of small vessel ischemic disease patients, different ischemic stroke subtypes and with functional studies.
PB  - Nature Research
T2  - Scientific Reports
T1  - PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice
IS  - 1
SP  - 6072
VL  - 11
DO  - 10.1038/s41598-021-84919-x
ER  - 

@article{
author = "Messerschmidt, Clemens and Foddis, Marco and Blumenau, Sonja and Müller, Susanne and Bentele, Kajetan and Holtgrewe, Manuel and Kun-Rodrigues, Celia and Alonso, Isabel and do Carmo Macario, Maria and Morgadinho, Ana Sofia and Velon, Ana Graça and Santo, Gustavo and Santana, Isabel and Mönkäre, Saana and Kuuluvainen, Liina and Schleutker, Johanna and Pöyhönen, Minna and Myllykangas, Liisa and Senatore, Assunta and Berchtold, Daniel and Winek, Katarzyna and Meisel, Andreas and Pavlović, Aleksandra and Kostić, Vladimir and Dobricic, Valerija and Lohmann, Ebba and Hanagasi, Hasmet and Guven, Gamze and Bilgic, Basar and Bras, Jose and Guerreiro, Rita and Beule, Dieter and Dirnagl, Ulrich and Sassi, Celeste",
year = "2021, 2021",
abstract = "Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechanism, such as the recruitment of brain collateral arteries like posterior communicating arteries (PcomAs), remains unknown. Therefore, we applied exome and genome sequencing in a multi-ethnic cohort of 180 early-onset independent familial and apparently sporadic brain small vessel ischemic disease and CADASIL-like Caucasian patients from US, Portugal, Finland, Serbia and Turkey and in 2 C57BL/6J stroke mouse models (bilateral common carotid artery stenosis [BCCAS] and middle cerebral artery occlusion [MCAO]), characterized by different degrees of PcomAs patency. We report 3 very rare coding variants in the small vessel ischemic disease-CADASIL-like cohort (p.Glu198Gln, p.Arg204Gly, p.Val251Leu) and a stop-gain mutation (p.Gln273*) in one MCAO mouse. These coding variants do not cluster in PHACTR1 known pathogenic domains and are not likely to play a critical role in small vessel ischemic disease or brain collateral circulation. We also exclude the possibility that copy number variants (CNVs) or a variant enrichment in Phactr1 may be associated with PcomA recruitment in BCCAS mice or linked to diverse vascular traits (cerebral blood flow pre-surgery, PcomA size, leptomeningeal microcollateral length and junction density during brain hypoperfusion) in C57BL/6J mice, respectively. Genetic variability in PHACTR1 is not likely to be a common susceptibility factor influencing small vessel ischemic disease in patients and PcomA recruitment in C57BL/6J mice. Nonetheless, rare variants in PHACTR1 RPEL domains may influence the stroke outcome and are worth investigating in a larger cohort of small vessel ischemic disease patients, different ischemic stroke subtypes and with functional studies.",
publisher = "Nature Research",
journal = "Scientific Reports",
title = "PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice",
number = "1",
pages = "6072",
volume = "11",
doi = "10.1038/s41598-021-84919-x"
}

Messerschmidt, C., Foddis, M., Blumenau, S., Müller, S., Bentele, K., Holtgrewe, M., Kun-Rodrigues, C., Alonso, I., do Carmo Macario, M., Morgadinho, A. S., Velon, A. G., Santo, G., Santana, I., Mönkäre, S., Kuuluvainen, L., Schleutker, J., Pöyhönen, M., Myllykangas, L., Senatore, A., Berchtold, D., Winek, K., Meisel, A., Pavlović, A., Kostić, V., Dobricic, V., Lohmann, E., Hanagasi, H., Guven, G., Bilgic, B., Bras, J., Guerreiro, R., Beule, D., Dirnagl, U.,& Sassi, C.. (2021). PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice. in Scientific Reports
Nature Research., 11(1), 6072.
https://doi.org/10.1038/s41598-021-84919-x

Messerschmidt C, Foddis M, Blumenau S, Müller S, Bentele K, Holtgrewe M, Kun-Rodrigues C, Alonso I, do Carmo Macario M, Morgadinho AS, Velon AG, Santo G, Santana I, Mönkäre S, Kuuluvainen L, Schleutker J, Pöyhönen M, Myllykangas L, Senatore A, Berchtold D, Winek K, Meisel A, Pavlović A, Kostić V, Dobricic V, Lohmann E, Hanagasi H, Guven G, Bilgic B, Bras J, Guerreiro R, Beule D, Dirnagl U, Sassi C. PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice. in Scientific Reports. 2021;11(1):6072.
doi:10.1038/s41598-021-84919-x .

Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel, Winek, Katarzyna, Meisel, Andreas, Pavlović, Aleksandra, Kostić, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Guven, Gamze, Bilgic, Basar, Bras, Jose, Guerreiro, Rita, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste, "PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice" in Scientific Reports, 11, no. 1 (2021):6072,
https://doi.org/10.1038/s41598-021-84919-x . .

TY  - JOUR
AU  - Svetel, Marina
AU  - Hartig, Monika
AU  - Cvetković, Dragana
AU  - Beaubois, Cyrielle
AU  - Maksić, Jasmina
AU  - Novaković, Ivana
AU  - Krajinović, Maja
AU  - Kostić, Vladimir
PY  - 2019
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/1206
AB  - Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor.
PB  - Srpsko biološko društvo, Beograd, i dr.
T2  - Archives of Biological Sciences
T1  - Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients
EP  - 280
IS  - 2
SP  - 275
VL  - 71
DO  - 10.2298/ABS181227009S
ER  - 

@article{
author = "Svetel, Marina and Hartig, Monika and Cvetković, Dragana and Beaubois, Cyrielle and Maksić, Jasmina and Novaković, Ivana and Krajinović, Maja and Kostić, Vladimir",
year = "2019",
abstract = "Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor.",
publisher = "Srpsko biološko društvo, Beograd, i dr.",
journal = "Archives of Biological Sciences",
title = "Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients",
pages = "280-275",
number = "2",
volume = "71",
doi = "10.2298/ABS181227009S"
}

Svetel, M., Hartig, M., Cvetković, D., Beaubois, C., Maksić, J., Novaković, I., Krajinović, M.,& Kostić, V.. (2019). Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients. in Archives of Biological Sciences
Srpsko biološko društvo, Beograd, i dr.., 71(2), 275-280.
https://doi.org/10.2298/ABS181227009S

Svetel M, Hartig M, Cvetković D, Beaubois C, Maksić J, Novaković I, Krajinović M, Kostić V. Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients. in Archives of Biological Sciences. 2019;71(2):275-280.
doi:10.2298/ABS181227009S .

Svetel, Marina, Hartig, Monika, Cvetković, Dragana, Beaubois, Cyrielle, Maksić, Jasmina, Novaković, Ivana, Krajinović, Maja, Kostić, Vladimir, "Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients" in Archives of Biological Sciences, 71, no. 2 (2019):275-280,
https://doi.org/10.2298/ABS181227009S . .

TY  - CONF
AU  - Tamaš, Olivera
AU  - Kostić, Vladimir
AU  - Glumbić, Nenad
AU  - Vukičević, Dušan
AU  - Tomić, Aleksandra
AU  - Dragašević, Nataša
PY  - 2016
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/2534
C3  - Adriatic Neurology Forum: Abstract book
T1  - Theory of mind in patients with hereditary ataxias
EP  - 42
SP  - 40
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_2534
ER  - 

@conference{
author = "Tamaš, Olivera and Kostić, Vladimir and Glumbić, Nenad and Vukičević, Dušan and Tomić, Aleksandra and Dragašević, Nataša",
year = "2016",
journal = "Adriatic Neurology Forum: Abstract book",
title = "Theory of mind in patients with hereditary ataxias",
pages = "42-40",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_2534"
}

Tamaš, O., Kostić, V., Glumbić, N., Vukičević, D., Tomić, A.,& Dragašević, N.. (2016). Theory of mind in patients with hereditary ataxias. in Adriatic Neurology Forum: Abstract book, 40-42.
https://hdl.handle.net/21.15107/rcub_rfasper_2534

Tamaš O, Kostić V, Glumbić N, Vukičević D, Tomić A, Dragašević N. Theory of mind in patients with hereditary ataxias. in Adriatic Neurology Forum: Abstract book. 2016;:40-42.
https://hdl.handle.net/21.15107/rcub_rfasper_2534 .

Tamaš, Olivera, Kostić, Vladimir, Glumbić, Nenad, Vukičević, Dušan, Tomić, Aleksandra, Dragašević, Nataša, "Theory of mind in patients with hereditary ataxias" in Adriatic Neurology Forum: Abstract book (2016):40-42,
https://hdl.handle.net/21.15107/rcub_rfasper_2534 .

TY  - BOOK
AU  - Kostić, Vladimir
AU  - Apostolski, Slobodan
AU  - Bulat, Petar
AU  - Bumbaširević, ljiljana
AU  - Cerovac, Nataša
AU  - Dragašević, Nataša
AU  - Jančić, Jasna
AU  - Jovanović, Dejana
AU  - Jovanović, Zagorka
AU  - Jović, Nebojša
AU  - Kozić, Dušan
AU  - Lavrnić, Dragana
AU  - Martinović, Žarko
AU  - Milić, Vedrana
AU  - Drulović, Jelena
AU  - Ocić, Gordana
AU  - Pavlović, Dragan
AU  - Rakočević, Vidosava
PY  - 2016
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/2515
PB  - Medicinski fakultet u Beogradu
T1  - Neurologija za studente medicine
SP  - 397
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_2515
ER  - 

@book{
author = "Kostić, Vladimir and Apostolski, Slobodan and Bulat, Petar and Bumbaširević, ljiljana and Cerovac, Nataša and Dragašević, Nataša and Jančić, Jasna and Jovanović, Dejana and Jovanović, Zagorka and Jović, Nebojša and Kozić, Dušan and Lavrnić, Dragana and Martinović, Žarko and Milić, Vedrana and Drulović, Jelena and Ocić, Gordana and Pavlović, Dragan and Rakočević, Vidosava",
year = "2016",
publisher = "Medicinski fakultet u Beogradu",
title = "Neurologija za studente medicine",
pages = "397",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_2515"
}

Kostić, V., Apostolski, S., Bulat, P., Bumbaširević, l., Cerovac, N., Dragašević, N., Jančić, J., Jovanović, D., Jovanović, Z., Jović, N., Kozić, D., Lavrnić, D., Martinović, Ž., Milić, V., Drulović, J., Ocić, G., Pavlović, D.,& Rakočević, V.. (2016). Neurologija za studente medicine. 
Medicinski fakultet u Beogradu., 397.
https://hdl.handle.net/21.15107/rcub_rfasper_2515

Kostić V, Apostolski S, Bulat P, Bumbaširević L, Cerovac N, Dragašević N, Jančić J, Jovanović D, Jovanović Z, Jović N, Kozić D, Lavrnić D, Martinović Ž, Milić V, Drulović J, Ocić G, Pavlović D, Rakočević V. Neurologija za studente medicine. 2016;:397.
https://hdl.handle.net/21.15107/rcub_rfasper_2515 .

Kostić, Vladimir, Apostolski, Slobodan, Bulat, Petar, Bumbaširević, ljiljana, Cerovac, Nataša, Dragašević, Nataša, Jančić, Jasna, Jovanović, Dejana, Jovanović, Zagorka, Jović, Nebojša, Kozić, Dušan, Lavrnić, Dragana, Martinović, Žarko, Milić, Vedrana, Drulović, Jelena, Ocić, Gordana, Pavlović, Dragan, Rakočević, Vidosava, "Neurologija za studente medicine" (2016):397,
https://hdl.handle.net/21.15107/rcub_rfasper_2515 .