Results 121 to 130 of about 955 (143)

Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency

Human Mutation, 2004
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their function.
Maria Pia Cosma, Stefano Pepe, Giancarlo Parenti   +2 more
exaly   +7 more sources

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44 [PDF]

Human Molecular Genetics, 2008
Sulfatase modifying factor 1 (SUMF1) encodes for the formylglicine generating enzyme, which activates sulfatases by modifying a key cysteine residue within their catalytic domains. SUMF1 is mutated in patients affected by multiple sulfatase deficiency, a rare recessive disorder in which all sulfatase activities are impaired.
Alessandro Fraldi, Ester Zito, Fabio Annunziata   +2 more
exaly   +7 more sources

Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease

Molecular Genetics and Metabolism, 2017
Multiple sulfatase deficiency (MSD) is a rare inherited metabolic disease caused by defective cellular sulfatases. Activity of sulfatases depends on post-translational modification catalyzed by formylglycine-generating enzyme (FGE), encoded by the SUMF1 gene. SUMF1 pathologic variants cause MSD, a syndrome presenting with a complex phenotype.
Ilona Jaszczuk, Lars Schlotawa, Thomas Dierks   +2 more
exaly   +7 more sources

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

Human Gene Therapy, 2014
Mucopolysaccharidosis type IIIA is a severe degenerative disease caused by an autosomal recessive defect of a gene encoding a lysosomal heparan-N-sulfamidase, the N-sulfoglycosamine sulfohydrolase (SGSH), the catalytic site of which is activated by a sulfatase-modifying factor (SUMF1).
Michel Zerah, Kumaran Deiva, Michael Hocquemiller   +2 more
exaly   +5 more sources

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Fallvorstellung einer weltweit seltenen homozygoten Splicemutation in SUMF1

Geburtshilfe Und Frauenheilkunde, 2022
Edith Reuschel, S Suttner, Sven Wellmann   +2 more
exaly   +2 more sources

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency [PDF]

Orphanet Journal of Rare Diseases, 2015
Multiple sulfatase deficiency is a rare inherited metabolic disorder caused by mutations in the SUMF1 gene. The disease remains poorly known, often leading to a late diagnosis. This study aimed to provide improved knowledge of the disease, through complete clinical, biochemical, and molecular descriptions of a cohort of unrelated patients.
Frédérique Sabourdy, Lionel Mourey, Nathalie Bednarek   +2 more
exaly   +5 more sources

Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene

Human Mutation, 2007
Sulfatases catalyze the hydrolysis of sulfate ester bonds from a wide variety of substrates and are implicated in several human inherited diseases. Multiple sulfatase deficiency (MSD) is a rare autosomal recessive disorder characterized by the simultaneous deficiency of all known sulfatases.
Valentina Bouché, Alessia Lombardi, Carmine Settembre   +2 more
exaly   +4 more sources

Effect of elongation factor 1α promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase

Molecular Biology Reports, 2008
Morquio A is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to the lysosomal accumulation of keratan-sulfate and chondroitin-6-sulfate. We evaluated in HEK293 cells the effect of the cytomegalovirus immediate early enhancer/promoter (CMV) or the elongation factor 1alpha (EF1alpha ...
CARLOS J Almeciga-Díaz, Olga Yaneth Echeverri-Peña, Adriana M Montano   +2 more
exaly   +3 more sources

Polymorphisms in the Sulfatase Modifying Factor 1 (SUMF1) gene are associated with lung function parameters in patients with COPD

Molecular pathology and functional genomics, 2023
Antonis Goulas, Leticia Grize, Daiana Stolz   +2 more
exaly   +2 more sources

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

Journal of Medical Genetics, 2007
We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real time quantitative polymerase chain ...
A, Iwaki, Y, Kawano, S, Miura, H, Shibata, D, Matsuse, W, Li, H, Furuya, Y, Ohyagi, T, Taniwaki, J, Kira, Y, Fukumaki   +10 more
openaire   +2 more sources