ZFIN Lab: Barakat Lab

ZFIN ID: ZDB-LAB-220929-3

ZFIN ID: ZDB-LAB-220929-3

Barakat Lab

PI/Director:	Barakat, Stefan
Contact Person:	Sanderson, Leslie
Email:	t.barakat@erasmusmc.nl
URL:	https://www.erasmusmc.nl/en/sophia/research/researchers/barakat-stefan
Address:	Department of Clinical Genetics Erasmus University Medical Center Rotterdam Doctor Molewaterplein 40, 3015 GD Rotterdam, office EE987b The Netherlands
Country:	Netherlands
Phone:
Fax:
Line Designation:	re

GENOMIC FEATURES ORIGINATING FROM THIS LAB

Show all 1 genomic features

STATEMENT OF RESEARCH INTERESTS

Our lab studies the role of the non-coding genome in gene regulation, with a focus on neurodevelopment and neurogenetic disease. As many genetic disorders of brain development cannot at present be explained by routine genetic diagnostics, we anticipate that many of these disorders are caused by alterations of non-coding elements, including enhancers. We aim to decipher the contribution of the non-coding genome to brain disorders, ultimately working towards the development of novel diagnostic tools and therapeutic strategies for patients.

LAB MEMBERS

Sanderson, Leslie Post-Doc

Lor-Zade, Sarah Graduate Student

Salsench, Eva Graduate Student

ZEBRAFISH PUBLICATIONS OF LAB MEMBERS

Stegmann, J.D., Kalanithy, J.C., Dworschak, G.C., Ishorst, N., Mingardo, E., Lopes, F.M., Ho, Y.M., Grote, P., Lindenberg, T.T., Yilmaz, Ö., Channab, K., Seltzsam, S., Shril, S., Hildebrandt, F., Boschann, F., Heinen, A., Jolly, A., Myers, K., McBride, K., Bekheirnia, M.R., Bekheirnia, N., Scala, M., Morleo, M., Nigro, V., Torella, A., TUDP consortium, Pinelli, M., Capra, V., Accogli, A., Maitz, S., Spano, A., Olson, R.J., Klee, E.W., Lanpher, B.C., Jang, S.S., Chae, J.H., Steinbauer, P., Rieder, D., Janecke, A.R., Vodopiutz, J., Vogel, I., Blechingberg, J., Cohen, J.L., Riley, K., Klee, V., Walsh, L.E., Begemann, M., Elbracht, M., Eggermann, T., Stoppe, A., Stuurman, K., van Slegtenhorst, M., Barakat, T.S., Mulhern, M.S., Sands, T.T., Cytrynbaum, C., Weksberg, R., Isidori, F., Pippucci, T., Severi, G., Montanari, F., Kruer, M.C., Bakhtiari, S., Darvish, H., Reutter, H., Hagelueken, G., Geyer, M., Woolf, A.S., Posey, J.E., Lupski, J.R., Odermatt, B., Hilger, A.C. (2024) Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies. NPJ genomic medicine. 9:1818

Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N.A., van der Linde, H.C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E.M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M.T., Ruijter, G.J.G., Lütjohann, D., Jacobs, E.H., Houlden, H., Pagnamenta, A.T., Metcalfe, K., Jackson, A., Banka, S., De Simone, L., Schwaede, A., Kuntz, N., Palculict, T.B., Abbas, S., Umair, M., AlMuhaizea, M., Colak, D., AlQudairy, H., Alsagob, M., Pereira, C., Trunzo, R., Karageorgou, V., Bertoli-Avella, A.M., Bauer, P., Bouman, A., Hoefsloot, L.H., van Ham, T.J., Issa, M., Zaki, M.S., Gleeson, J.G., Willemsen, R., Kaya, N., Arold, S.T., Maroofian, R., Sanderson, L.E., Barakat, T.S. (2023) AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathologica. 146(2):353-368

Berdowski, W.M., van der Linde, H.C., Breur, M., Oosterhof, N., Beerepoot, S., Sanderson, L., Wijnands, L.I., de Jong, P., Tsai-Meu-Chong, E., de Valk, W., de Witte, M., van IJcken, W.F.J., Demmers, J., van der Knaap, M.S., Bugiani, M., Wolf, N.I., van Ham, T.J. (2022) Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy. Acta Neuropathologica. 144(2):211-239

Martin, M., Vermeiren, S., Bostaille, N., Eubelen, M., Spitzer, D., Vermeersch, M., Profaci, C.P., Pozuelo, E., Toussay, X., Raman-Nair, J., Tebabi, P., America, M., De Groote, A., Sanderson, L.E., Cabochette, P., Germano, R.F.V., Torres, D., Boutry, S., de Kerchove d'Exaerde, A., Bellefroid, E.J., Phoenix, T.N., Devraj, K., Lacoste, B., Daneman, R., Liebner, S., Vanhollebeke, B. (2022) Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders. Science (New York, N.Y.). 375:eabm4459

Yousefi, S., Deng, R., Lanko, K., Salsench, E.M., Nikoncuk, A., van der Linde, H.C., Perenthaler, E., van Ham, T.J., Mulugeta, E., Barakat, T.S. (2021) Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance. Genome Medicine. 13:162

Berdowski, W.M., Sanderson, L.E., van Ham, T.J. (2021) The multicellular interplay of microglia in health and disease: lessons from leukodystrophy. Disease models & mechanisms. 14(8)

Sofou, K., Meier, K., Sanderson, L.E., Kaminski, D., Montoliu-Gaya, L., Samuelsson, E., Blomqvist, M., Agholme, L., Gärtner, J., Mühlhausen, C., Darin, N., Barakat, T.S., Schlotawa, L., van Ham, T., Asin Cayuela, J., Sterky, F.H. (2021) Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. EMBO Molecular Medicine. 13(5):e13376

Sanderson, L.E., Lanko, K., Alsagob, M., Almass, R., Al-Ahmadi, N., Najafi, M., Al-Muhaizea, M.A., Alzaidan, H., AlDhalaan, H., Perenthaler, E., van der Linde, H.C., Nikoncuk, A., Kühn, N.A., Antony, D., Owaidah, T.M., Raskin, S., Vieira, L.G.D.R., Mombach, R., Ahangari, N., Silveira, T.R.D., Ameziane, N., Rolfs, A., Alharbi, A., Sabbagh, R.M., AlAhmadi, K., Alawam, B., Ghebeh, H., AlHargan, A., Albader, A.A., Binhumaid, F.S., Goljan, E., Monies, D., Mustafa, O.M., Aldosary, M., AlBakheet, A., Alyounes, B., Almutairi, F., Al-Odaib, A., Aksoy, D.B., Basak, A.N., Palvadeau, R., Trabzuni, D., Rosenfeld, J.A., Karimiani, E.G., Meyer, B.F., Karakas, B., Al-Mohanna, F., Arold, S.T., Colak, D., Maroofian, R., Houlden, H., Bertoli-Avella, A.M., Schmidts, M., Barakat, T.S., van Ham, T.J., Kaya, N. (2021) Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain : a journal of neurology. 144(3):769-780

Barish, S., Barakat, T.S., Michel, B.C., Mashtalir, N., Phillips, J.B., Valencia, A.M., Ugur, B., Wegner, J., Scott, T.M., Bostwick, B., Undiagnosed Diseases Network, Murdock, D.R., Dai, H., Perenthaler, E., Nikoncuk, A., van Slegtenhorst, M., Brooks, A.S., Keren, B., Nava, C., Mignot, C., Douglas, J., Rodan, L., Nowak, C., Ellard, S., Stals, K., Lynch, S.A., Faoucher, M., Lesca, G., Edery, P., Engleman, K.L., Zhou, D., Thiffault, I., Herriges, J., Gass, J., Louie, R.J., Stolerman, E., Washington, C., Vetrini, F., Otsubo, A., Pratt, V.M., Conboy, E., Treat, K., Shannon, N., Camacho, J., Wakeling, E., Yuan, B., Chen, C.A., Rosenfeld, J.A., Westerfield, M., Wangler, M., Yamamoto, S., Kadoch, C., Scott, D.A., Bellen, H.J. (2020) BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American journal of human genetics. 107(6):1096-1112

Hengel, H., Bosso-Lefèvre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, É., Tan, T.T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., van Slegtenhorst, M., Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y.J., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R., Schüle, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, M.A., Jamuar, S.S., Schöls, L., Reversade, B. (2020) Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nature communications. 11:595

Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W.M., Alsagob, M., Capo, I., van der Linde, H.C., van den Berg, P., Jacobs, E.H., Putar, D., Ghazvini, M., Aronica, E., van IJcken, W.F.J., de Valk, W.G., Medici-van den Herik, E., van Slegtenhorst, M., Brick, L., Kozenko, M., Kohler, J.N., Bernstein, J.A., Monaghan, K.G., Begtrup, A., Torene, R., Al Futaisi, A., Al Murshedi, F., Mani, R., Al Azri, F., Kamsteeg, E.J., Mojarrad, M., Eslahi, A., Khazaei, Z., Darmiyan, F.M., Doosti, M., Karimiani, E.G., Vandrovcova, J., Zafar, F., Rana, N., Kandaswamy, K.K., Hertecant, J., Bauer, P., AlMuhaizea, M.A., Salih, M.A., Aldosary, M., Almass, R., Al-Quait, L., Qubbaj, W., Coskun, S., Alahmadi, K.O., Hamad, M.H.A., Alwadaee, S., Awartani, K., Dababo, A.M., Almohanna, F., Colak, D., Dehghani, M., Mehrjardi, M.Y.V., Gunel, M., Ercan-Sencicek, A.G., Passi, G.R., Cheema, H.A., Efthymiou, S., Houlden, H., Bertoli-Avella, A.M., Brooks, A.S., Retterer, K., Maroofian, R., Kaya, N., van Ham, T.J., Barakat, T.S. (2019) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta Neuropathologica. 139(3):415-442

Zhang, L., Huang, H., Zhou, F., Schimmel, J., Pardo, C.G., Zhang, T., Barakat, T.S., Sheppard, K.A., Mickanin, C., Porter, J.A., Vertegaal, A.C., van Dam, H., Gribnau, J., Lu, C.X., and Ten Dijke, P. (2012) RNF12 Controls Embryonic Stem Cell Fate and Morphogenesis in Zebrafish Embryos by Targeting Smad7 for Degradation. Molecular Cell. 46(5):650-661