Results 1 to 10 of about 955 (143)

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency [PDF]

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease.
Rachel M Bailey, Lauren Bailey, Cathleen Lutz   +2 more
exaly   +7 more sources

Association between SUMF1 polymorphisms and COVID-19 severity [PDF]

BMC Genomic Data, 2023
Background Evidence shows that genetic factors play important roles in the severity of coronavirus disease 2019 (COVID-19). Sulfatase modifying factor 1 (SUMF1) gene is involved in alveolar damage and systemic inflammatory response.
Huixia Gao, Yanyan Xie, Gao Huixia
exaly   +6 more sources

Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity [PDF]

Clinical Genetics
We describe three patients with biallelic SUMF1 variants, reduced sulfatase enzyme activity, and retinal dystrophy. Phenotypes range from mild systemic manifestations to isolated ocular involvement, representing the mildest documented phenotypes associated with multiple sulfatase deficiency.
Gavin Arno
exaly   +10 more sources

Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease [PDF]

Respiratory Research, 2017
Background It has been observed that mice lacking the sulfatase modifying factor (Sumf1) developed an emphysema-like phenotype. However, it is unknown if SUMF1 may play a role in Chronic Obstructive Pulmonary Disease (COPD) in humans.
Julie Weidner, Linnea Jarenbäck, Kim De Jong   +2 more
exaly   +8 more sources

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation.
Orna Staretz-Chacham, Lars Schlotawa, Ohad Wormser   +2 more
exaly   +7 more sources

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review [PDF]

BMC Pediatrics, 2023
Background Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the ...
Jayesh Sheth, Chaitanya Datar, Aadhira Nair   +2 more
exaly   +5 more sources

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency [PDF]

Journal of Inherited Metabolic Disease, 2023
AbstractMultiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to deficiency of all known sulfatases. MSD is caused by mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene encoding the enzyme responsible for the post‐translational modification and activation of all sulfatases.
Nicola Brunetti-Pierri
exaly   +9 more sources

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency [PDF]

Frontiers in Cell and Developmental Biology, 2022
Multiple sulfatase deficiency (MSD) is a rare recessively inherited Mendelian disorder that manifests with developmental delay, neurodegeneration, skeletal deformities, facial dysmorphism, congenital growth retardation, and other clinical signs.
Angeleen Fleming, Angeleen Fleming, Angeleen Fleming, Low Zhe Xuan, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Sarah V. Williams, Sarah V. Williams, Sarah V. Williams, Dylan Windell, Dylan Windell, Dylan Windell, Michael H. Gelb, Zackary M. Herbst, Lars Schlotawa, David C. Rubinsztein, David C. Rubinsztein   +17 more
doaj   +4 more sources

Single-nucleotide polymorphisms in the sulfatase-modifying factor 1 gene are associated with lung function and COPD [PDF]

ERJ Open Research, 2022
Single nucleotide polymorphisms (SNPs) in various genes have been shown to associate with COPD, suggesting a role in disease pathogenesis. Sulfatase modifying factor (SUMF1) is a key modifier in connective tissue remodelling, and we have shown previously
Linnea Jarenbäck, Sophia Frantz, Julie Weidner, Jaro Ankerst, Ulf Nihlén, Leif Bjermer, Per Wollmer, Ellen Tufvesson   +7 more
doaj   +3 more sources

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model [PDF]

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz   +10 more
doaj   +4 more sources