Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Marija Dulovic"'
Autor:
Sokhna Haissatou Diaw, Max Borsche, Linn Streubel-Gallasch, Marija Dulovic-Mahlow, Julia Hermes, Insa Lenz, Philip Seibler, Christine Klein, Norbert Brüggemann, Melissa Vos, Katja Lohmann
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-11 (2023)
Abstract Despite being a major component of Lewy bodies and Lewy neurites, pathogenic variants in the gene encoding alpha-Synuclein (α-Syn) are rare. To date, only four missense variants in the SNCA gene, encoding α-Syn have unequivocally been show
Externí odkaz:
https://doaj.org/article/024219ee477647269aae6b3e97408c76
Autor:
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König, Ana Westenberger
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-8 (2021)
Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with
Externí odkaz:
https://doaj.org/article/11ebd21e7c7b492c804497da333f8fd9
Autor:
Sokhna Haissatou Diaw, Christos Ganos, Simone Zittel, Kirstin Plötze-Martin, Leonora Kulikovskaja, Melissa Vos, Ana Westenberger, Aleksandar Rakovic, Katja Lohmann, Marija Dulovic-Mahlow
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9524 (2022)
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 e
Externí odkaz:
https://doaj.org/article/93ecfd450a7c45209bea851455b9362f
Autor:
Marija Dulovic-Mahlow, Agnieszka Lukomska, Sokhna Haissatou Diaw, Alexander Balck, Max Borsche, Karen Grütz, Insa Lenz, Franziska Rudolph, Katja Lohmann, Christine Klein, Philip Seibler
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Despite a genetic component in the development of Parkinson’s disease (PD), monozygotic twin pairs often display discordance for PD. Here, we describe the generation of six human induced pluripotent stem cell (iPSC) lines from dermal fibroblasts of
Externí odkaz:
https://doaj.org/article/8c5abab051274345a1c9d90b47b446b7
Autor:
Marija Dulovic, Maja Jovanovic, Maria Xilouri, Leonidas Stefanis, Ljubica Harhaji-Trajkovic, Tamara Kravic-Stevovic, Verica Paunovic, Mustafa T. Ardah, Omar M.A. El-Agnaf, Vladimir Kostic, Ivanka Markovic, Vladimir Trajkovic
Publikováno v:
Neurobiology of Disease, Vol 63, Iss , Pp 1-11 (2014)
In the present study, we investigated the role of the main intracellular energy sensor, AMP-activated protein kinase (AMPK), in the in vitro neurotoxicity of α-synuclein (ASYN), one of the key culprits in the pathogenesis of Parkinson's disease. The
Externí odkaz:
https://doaj.org/article/0a9614463d274d7799fd5280936268cb
Autor:
Max Borsche, Marija Dulovic-Mahlow, Hauke Baumann, Sinem Tunc, Theresa Lüth, Susen Schaake, Selin Özcakir, Ana Westenberger, Alexander Münchau, Evelyn Knappe, Joanne Trinh, Norbert Brüggemann, Katja Lohmann
Publikováno v:
The Cerebellum.
Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected a novel POLG2 variant (c.1270 T > C, p.Ser424Pro) in a family with adult-onset cerebellar ataxia and pro
Autor:
Christine Klein, Katja Lohmann, Evelyn Knappe, Neele Kuhnke, Philip Seibler, Joachim Weber, Peter P. Urban, Sylvie Delcambre, Tillman Vollbrandt, Sokhna Haissatou Diaw, Joanne Trinh, Anne Grünewald, Inke R. König, Patrycja Kupnicka, Frauke Hinrichs, Marija Dulovic-Mahlow, Lena-Christin Ingwersen, Alexander Balck
Publikováno v:
Annals of Neurology. 89:158-164
Objective Even though genetic predisposition has proven to be an important element in Parkinson's disease (PD) etiology, monozygotic (MZ) twins with PD displayed a concordance rate of only about 20% despite their shared identical genetic background.
Autor:
Valerija Dobricic, Christine Klein, Marija Dulovic-Mahlow, Katja Lohmann, Alexander Münchau, Sophie Imhoff, Krishna Kumar Kandaswamy, Jochen Schäfer, Vera Tadic, Norbert Brüggemann, Arndt Rolfs, Joanne Trinh, Martin Werber, Achim Nolte
Publikováno v:
Journal of Neurology. 267:770-782
Neurometabolic disorders are often inherited and complex disorders that result from abnormalities of enzymes important for development and function of the nervous system. Recently, biallelic mutations in NAXE (APOA1BP) were found in patients with an
Autor:
Claudia Böhm, Marija Dulovic-Mahlow, Frida Mandik, Julia Depperschmidt, Thora Lohnau, Inke R. König, Yuliia Kanana, Melissa Vos, Sokhna Haissatou Diaw, Lisa Frese, Christine Klein, Jonas Rohr
Publikováno v:
Autophagy
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America
Significance Ceramide accumulates in Parkinson’s disease–related PINK1 deficiency to initiate ceramide-mediated mitophagy as an alternative pathway to overcome defective PINK1-related mitophagy and the concomitant increased requirements for mitoc
Autor:
Victor Krajka, Arndt Rolfs, Joanne Trinh, Rami Abou Jamra, Kristian Tveten, Geir J. Braathen, Rabea Affan, Mohammed Al Balwi, Frauke Hinrichs, Øystein L. Holla, Marija Dulovic-Mahlow, Maximilian E. R. Weiss, Nataliya Di Donato, Shivendra Kishore, Skadi Beblo, Martin Werber, Krishna Kumar Kandaswamy, Elisa Rahikkala, Katja Lohmann, Nouriya Al-Sannaa, Øyvind L. Busk, Gabriela Oprea, Hauke Baumann, Nir Navot, Anne-Karin Kahlert, Melissa Vos
Publikováno v:
The American Journal of Human Genetics. 105:213-220
De novo variants represent a significant cause of neurodevelopmental delay and intellectual disability. A genetic basis can be identified in only half of individuals who have neurodevelopmental disorders (NDDs); this indicates that additional causes