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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, Hertel N, Huebner AK, Mumtaz R, Schweizer M, Dirren E, Karle KN, Irintchev A, Alvarez V, Redies C, Westermann M, Kurth I, Deufel T, Kessels MM, Qualmann B, Hübner CA. Beetz C, et al. Among authors: mumtaz r. J Clin Invest. 2013 Oct;123(10):4273-82. doi: 10.1172/JCI65665. Epub 2013 Sep 24. J Clin Invest. 2013. PMID: 24051375 Free PMC article.
First HPSE2 missense mutation in urofacial syndrome.
Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Hassan SA, Rana S, Nürnberg P, Hübner CA. Mahmood S, et al. Among authors: mumtaz r. Clin Genet. 2012 Jan;81(1):88-92. doi: 10.1111/j.1399-0004.2011.01649.x. Epub 2011 Mar 10. Clin Genet. 2012. PMID: 21332471
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: mumtaz r. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.
Intercalated Cell Depletion and Vacuolar H+-ATPase Mistargeting in an Ae1 R607H Knockin Model.
Mumtaz R, Trepiccione F, Hennings JC, Huebner AK, Serbin B, Picard N, Ullah AKMS, Păunescu TG, Capen DE, Lashhab RM, Mouro-Chanteloup I, Alper SL, Wagner CA, Cordat E, Brown D, Eladari D, Hübner CA. Mumtaz R, et al. J Am Soc Nephrol. 2017 May;28(5):1507-1520. doi: 10.1681/ASN.2016020169. Epub 2016 Dec 8. J Am Soc Nephrol. 2017. PMID: 27932475 Free PMC article.
42 results