Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

Autor: Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner

Publikováno v: EMBO Molecular Medicine, Vol 15, Iss 3, Pp 1-21 (2023)

Abstract Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine‐generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular

Externí odkaz: https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4

Detection and quantification of microparticles from different cellular lineages using flow cytometry. Evaluation of the impact of secreted phospholipase A2 on microparticle assessment.

Autor: Matthieu Rousseau, Clemence Belleannee, Anne-Claire Duchez, Nathalie Cloutier, Tania Levesque, Frederic Jacques, Jean Perron, Peter A Nigrovic, Melanie Dieude, Marie-Josee Hebert, Michael H Gelb, Eric Boilard

Publikováno v: PLoS ONE, Vol 10, Iss 1, p e0116812 (2015)

Microparticles, also called microvesicles, are submicron extracellular vesicles produced by plasma membrane budding and shedding recognized as key actors in numerous physio(patho)logical processes. Since they can be released by virtually any cell lin

Externí odkaz: https://doaj.org/article/93825be2350244a0be28b8e8ed8c4146

Key role of group v secreted phospholipase A2 in Th2 cytokine and dendritic cell-driven airway hyperresponsiveness and remodeling.

Autor: William R Henderson, Xin Ye, Ying Lai, Zhanglin Ni, James G Bollinger, Ying-Tzang Tien, Emil Y Chi, Michael H Gelb

Publikováno v: PLoS ONE, Vol 8, Iss 2, p e56172 (2013)

Previous work has shown that disruption of the gene for group X secreted phospholipase A2 (sPLA2-X) markedly diminishes airway hyperresponsiveness and remodeling in a mouse asthma model. With the large number of additional sPLA2s in the mammalian gen

Externí odkaz: https://doaj.org/article/b4773573adb6453e808decf4ed26381e

Newborn screening for Cerebrotendinous Xanthomatosis

Autor: Frédéric M. Vaz, Youssra Jamal, Rob Barto, Michael H. Gelb, Andrea E. DeBarber, Ron A. Wevers, Marcel R. Nelen, Aad Verrips, Albert H. Bootsma, Marelle J. Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S. Salomons, Hidde H. Huidekoper

Publikováno v: Vaz, F M, Jamal, Y, Barto, R, Gelb, M H, DeBarber, A E, Wevers, R A, Nelen, M R, Verrips, A, Bootsma, A H, Bouva, M J, Kleise, N, van der Zee, W, He, T, Salomons, G S & Huidekoper, H H 2023, ' Newborn screening for Cerebrotendinous Xanthomatosis : A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns ', Clinica Chimica Acta, vol. 539, pp. 170-174 . https://doi.org/10.1016/j.cca.2022.12.011
Clinica chimica acta; international journal of clinical chemistry, 539, 170-174. Elsevier
Clinica Chimica Acta, 539, 170-174. Elsevier

Background and aims: Cerebrotendinous Xanthomatosis (CTX) is a treatable disorder of bile acid synthesis caused by deficiency of 27-sterol hydroxylase -encoded by CYP27A1- leading to gastrointestinal and progressive neuropsychiatric symptoms. Biochem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4fca79357ee71286b59ed2d208de6f1
http://www.scopus.com/inward/record.url?scp=85144254359&partnerID=8YFLogxK

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

Autor: Jennifer L. Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young, Michael H. Gelb, Hamid Khaledi, Alicia DiBattista, Stacey Smallshaw, Felipe Moretti, Derek Wong, Catherine Lacroix, Dina El Demellawy, Kyle C. Strickland, Jane Lougheed, Anita Moon-Grady, Billie R. Lianoglou, Paul Harmatz, Priya S. Kishnani, Tippi C. MacKenzie

Publikováno v: The New England journal of medicine. 387(23)

Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e493405f2c4ea067d78089c3ebd715f7
https://pubmed.ncbi.nlm.nih.gov/36351280