Cargando…

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

Multiple sulfatase deficiency (MSD) is an ultra‐rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine‐generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase defi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693296/ https://www.ncbi.nlm.nih.gov/pubmed/32749716 http://dx.doi.org/10.1002/jimd.12298

Ejemplares similares

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
por: Staretz‐Chacham, Orna, et al.
Publicado: (2020)

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
por: Schlotawa, Lars, et al.
Publicado: (2020)

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient
por: Schlotawa, Lars, et al.
Publicado: (2019)

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency
por: Schlotawa, Lars, et al.
Publicado: (2023)

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort
por: Beck‐Wödl, Stefanie, et al.
Publicado: (2020)

Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review
por: Schittkowski, Michael P., et al.
Publicado: (2023)

Nonhepatic hyperammonemic encephalopathy complications following bariatric surgery: a case report and review of the literature
por: Vinegrad, Nuphar, et al.
Publicado: (2021)

Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study
por: Epstein Weiss, Tali, et al.
Publicado: (2022)

Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement
por: Kraus, Dror, et al.
Publicado: (2022)

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency
por: Fleming, Angeleen, et al.
Publicado: (2022)

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe
por: Staretz-Chacham, Orna, et al.
Publicado: (2021)

Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities
por: Hazan, G., et al.
Publicado: (2020)

Exploring the Sulfatase 1 Catch Bond Free Energy Landscape using Jarzynski’s Equality
por: Walhorn, Volker, et al.
Publicado: (2018)

Inflammatory and vascular placental lesions are associated with neonatal amplitude integrated EEG recording in early premature neonates
por: Paz-Levy, Dorit, et al.
Publicado: (2017)

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency
por: Staretz-Chacham, Orna, et al.
Publicado: (2021)

The SULFs, Extracellular Sulfatases for Heparan Sulfate, Promote the Migration of Corneal Epithelial Cells during Wound Repair
por: Maltseva, Inna, et al.
Publicado: (2013)

Predictors of Developmental and Respiratory Outcomes Among Preterm Infants With Bronchopulmonary Dysplasia
por: Morag, Iris, et al.
Publicado: (2021)

Sulfatase 1 and sulfatase 2 as novel regulators of macrophage antigen presentation and phagocytosis
por: Kim, Hyun-Je, et al.
Publicado: (2021)

Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy
por: Strölin, Manuel, et al.
Publicado: (2017)

Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial
por: Sharma, Reena, et al.
Publicado: (2023)

Sulfatase 2 Is Associated with Steroid Resistance in Childhood Nephrotic Syndrome
por: Agrawal, Shipra, et al.
Publicado: (2021)

Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2017)

The impact of severe rare chronic neurological disease in childhood on the quality of life of families—a study on MLD and PCH2
por: Ammann-Schnell, Louisa, et al.
Publicado: (2021)

Galectins: Double-edged Swords in the Cross-roads of Pregnancy Complications and Female Reproductive Tract Inflammation and Neoplasia
por: Than, Nandor Gabor, et al.
Publicado: (2015)

Phylogeny of Algal Sequences Encoding Carbohydrate Sulfotransferases, Formylglycine-Dependent Sulfatases, and Putative Sulfatase Modifying Factors
por: Ho, Chai-Ling
Publicado: (2015)

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia
por: Mühlhausen, Chris, et al.
Publicado: (2020)

Structural insights into choline-O-sulfatase reveal the molecular determinants for ligand binding
por: Gavira, Jose Antonio, et al.
Publicado: (2022)

Multiple sulfatase deficiency with neonatal manifestation
por: Garavelli, Livia, et al.
Publicado: (2014)

Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease
por: Weidner, Julie, et al.
Publicado: (2019)

Mycobacterium tuberculosis Rv3406 Is a Type II Alkyl Sulfatase Capable of Sulfate Scavenging
por: Sogi, Kimberly M., et al.
Publicado: (2013)

Site-Specific Regulation of Sulfatase and Aromatase Pathways for Estrogen Production in Endometriosis
por: Da Costa, Katiane de Almeida, et al.
Publicado: (2022)

Late infantile form of multiple sulfatase deficiency
por: Mohammadian Khonsari, Nami, et al.
Publicado: (2020)

Sulfatase-cleavable linkers for antibody-drug conjugates
por: Bargh, Jonathan D., et al.
Publicado: (2020)

Sulfatases: Critical Enzymes for Algal Polysaccharide Processing
por: Hettle, Andrew G., et al.
Publicado: (2022)

Mammalian Sulfatases: Biochemistry, Disease Manifestation, and Therapy
por: Mashima, Ryuichi, et al.
Publicado: (2022)

Structural and Mechanistic Analysis of the Choline Sulfatase from Sinorhizobium melliloti: A Class I Sulfatase Specific for an Alkyl Sulfate Ester
por: van Loo, Bert, et al.
Publicado: (2018)

Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation
por: Lee, Jee Hyun, et al.
Publicado: (2011)

In breast cancer subtypes steroid sulfatase (STS) is associated with less aggressive tumour characteristics
por: McNamara, Keely M, et al.
Publicado: (2018)

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia
por: Weber, Thomas, et al.
Publicado: (2020)

The Important Roles of Steroid Sulfatase and Sulfotransferases in Gynecological Diseases
por: Rižner, Tea Lanišnik
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_tf428hc6qol6unc4lkha4lle25