Results 41 to 50 of about 60,786 (163)

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency

bioRxiv, 2023
Multiple sulfatase deficiency (MSD) is an ultra-rare, inherited lysosomal storage disease caused by mutations in the gene sulfatase modifying factor 1 (SUMF1).
Vi Pham, Livia Sertori Finoti, Margaret M. Cassidy, J. Maguire, Alyssa L. Gagne, Elisa A. Waxman, Deborah L. French, Kaitlyn King, Zitao Zhou, Michael H. Gelb, Parith Wongkittichote, X. Hong, L. Schlotawa, Beverly L. Davidson, R. Ahrens-Nicklas   +14 more
semanticscholar   +1 more source

Multiple Sulfatase Deficiency PerlQuest Research Plan v2

, 2022
Proposal to generate Multiple Sulfatase Deficiency fly patient avatars expressing specific SUMF1 ...
ETHAN PERLSTEIN (12257612)
core   +1 more source

The Effects of N-Acetyl-L-Leucine on the Improvement of Symptoms in a Patient with Multiple Sulfatase Deficiency

Cerebellum, 2022
Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease with specific clinical findings such as psychomotor retardation and neurological deterioration. No therapy is available for this genetic disorder.
M. Saberi-Karimian, Mahsa Houra, T. Jamialahmadi, Pooria Sarvghadi, Mahlagha Nikbaf, S. Akhlaghi, Amirhosein Sahebkar   +6 more
semanticscholar   +1 more source

Multiple sulfatase deficiency [PDF]

, 2020
Multiple sulfatase deficiency (MSD) was reported in 1965 as a metachromatic leukodystrophy (MLD) in which there were also features of mucopolysaccharidosis. In patients with MSD, the mutated enzyme is retained in the endoplasmic reticulum. The phenotypic outcome in MSD depends on the degree of residual formylglycine-generating enzyme activity and on ...
openaire   +2 more sources

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

Cell Reports, 2018
Summary: Multiple sulfatase deficiency (MSD) is a fatal, inherited lysosomal storage disorder characterized by reduced activities of all sulfatases in patients.
Lars Schlotawa, Michaela Wachs, Olaf Bernhard, Franz J. Mayer, Thomas Dierks, Bernhard Schmidt, Karthikeyan Radhakrishnan   +6 more
doaj   +1 more source

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

JIMD Reports, 2021
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj   +1 more source

Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency

, 2023
Adang L, Herbst Z (A) M, Zhou Z, et al. Differential Post-Translational Sulfatase Activation Correlates with Disease Severity in Multiple Sulfatase Deficiency. Annals of Neurology .
Pillai, Nishitha, Gelb, Michael, Pasquali, Marzia, Schlotawa, Lars, De Castro, Mauricio, Herbst, Zackary (Ari) M., Adang, Laura, Bentley, Brenna, Ahrens-Nicklas, Rebecca C., Costin, Carrie, Zhou, Zitao, Mowafi, Samar, Orchard, Paul, Radhakrishnan, Karthikeyan, Vanderver, Adeline   +14 more
core   +1 more source

Multiple Deficiency of Mucopolysaccharide Sulfatases in Mucosulfatidosis [PDF]

Pediatric Research, 1979
Fibroblasts of four patients affected with mucosulfatidosis (multiple sulfatase deficiency, Austin variant of metachromatic leukodystrophy) were assayed for activities of the five sulfatases known to degrade mucopolysaccharides. These were iduronide 2-sulfate sulfatase, sulfamidase, N-acetyl-galactosamine 6-sulfate sulfatase, arylsulfatase B (N ...
R, Basner, K, von Figura, J, Glössl, U, Klein, H, Kresse, W, Mlekusch   +5 more
openaire   +2 more sources

Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

Molecular Genetics and Metabolism Reports, 2020
Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal form to
Faruk Pekgül, Nesibe Gevher Eroğlu-Ertuğrul, Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Arda Çetinkaya, Ersin Tan, Bahadır Konuşkan, Ergun Karaağaoğlu, Meral Topçu, Nurten Ayşe Akarsu, Kader K. Oguz, Banu Anlar, Hatice Asuman Özkara   +12 more
doaj   +1 more source