Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Lucia Laugwitz"'
Autor:
Rebecca Mächtel, Jan‐Philipp Dobert, Ute Hehr, Alexander Weiss, Matthias Kettwig, Lucia Laugwitz, Samuel Groeschel, Manuel Schmidt, Philipp Arnold, Martin Regensburger, Friederike Zunke
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1715-1731 (2024)
Abstract Objective Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late‐onset phenotypes, symptoms are often milder and difficult t
Externí odkaz:
https://doaj.org/article/21c7a70980a149a8bbd8094c36ff92e6
Autor:
Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G. Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 7 (2024)
Externí odkaz:
https://doaj.org/article/829e553d22584a2c9da550a5d7e2d965
Autor:
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in
Externí odkaz:
https://doaj.org/article/4a3ea2bf39934c278c9a7f0dbf03854f
Autor:
Lucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, Claire Cannet, Judith Böhringer, Jürgen G. Okun, Manfred Spraul, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Christoph Trautwein
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 168-180 (2022)
Abstract Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination.
Externí odkaz:
https://doaj.org/article/0f1efdd0ccc549398ca53844ee8f0043
Autor:
Joana Feldmann, Pascal Martin, Benjamin Bender, Lucia Laugwitz, Laimdota Zizmare, Christoph Trautwein, Ingeborg Krägeloh-Mann, Uwe Klose, Samuel Groeschel
Publikováno v:
NeuroImage: Clinical, Vol 37, Iss , Pp 103296- (2023)
Background and purpose: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to demyelination and subsequently to a progressive decline in cognitive and motor function. It affects mainly white matter where changes duri
Externí odkaz:
https://doaj.org/article/afa7e5848d5c49cfaa215ab99cf19dae
Autor:
Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Publikováno v:
Redox Biology, Vol 58, Iss , Pp 102517- (2022)
Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including
Externí odkaz:
https://doaj.org/article/c104284c656d4baba6f0fc3dc95350b4
Autor:
Juliane Münch, Jannik Prasuhn, Lucia Laugwitz, Cheuk-Wing Fung, Brian H.-Y. Chung, Marcello Bellusci, Ertan Mayatepek, Dirk Klee, Felix Distelmaier
Publikováno v:
Antioxidants, Vol 12, Iss 3, p 718 (2023)
Coenzyme Q10 (CoQ10) is an endogenously synthesized lipid molecule. It is best known for its role as a cofactor within the mitochondrial respiratory chain where it functions in electron transfer and ATP synthesis. However, there are many other cellul
Externí odkaz:
https://doaj.org/article/32df7fb6fc4f4a64a575318dfcfb0499
Autor:
Vidiyaah, Santhanakumaran, Samuel, Groeschel, Klaus, Harzer, Christiane, Kehrer, Saskia, Elgün, Stefanie, Beck-Wödl, Holger, Hengel, Ludger, Schöls, Tobias B, Haack, Ingeborg, Krägeloh-Mann, Lucia, Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 137:273-282
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Subsequent accumulation of sulfatides leads to demyelination and neurodegeneration in the central and peripheral ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbede6958efbf0918bf70cae6d967e6
https://doi.org/10.1016/j.ymgme.2022.09.009
https://doi.org/10.1016/j.ymgme.2022.09.009
Autor:
Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer
Pontocerebellar hypoplasia type 2 a (PCH2a) is a rare, autosomal recessive neurogenetic disorder. Affected individuals present with early and severe neurological impairment. The anatomical hallmark of PCH2a is the hypoplasia of the cerebellum and pon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68c7b520c6de28f130b5367a8aaaf6bf
https://doi.org/10.1101/2022.10.13.512020
https://doi.org/10.1101/2022.10.13.512020
Autor:
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, Christiane Kehrer, Saskia Elgün, Stefanie Beck-Wödl, Holger Hengel, Ludger Schöls, Tobias B. Haack, Ingeborg Krägeloh-Mann, Lucia Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 138:107372
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc1ef9aa5d397cc0757475bd43015489
https://doi.org/10.1016/j.ymgme.2023.107372
https://doi.org/10.1016/j.ymgme.2023.107372