Results 41 to 50 of about 955 (143)

Advances in therapies for neurological lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 874-905, September 2023., 2023
Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic diseases caused by functional defects in specific lysosomal proteins. The lysosome is a cellular organelle that plays a critical role in catabolism of waste products and recycling of macromolecules in the body.
S. Ellison, H. Parker, B. Bigger
wiley   +1 more source

Additional file 1 of Association between SUMF1 polymorphisms and COVID-19 severity

, 2023
Additional file 1: Table S1. Genotypes of rs794185 in the Chinese Han population. Table S2. Snp rs794185 location information.
Liang, Shaohui, Gao, Huixia, He, Tongxin, Li, Li, Zhang, Xin, Zhao, Lei, Chen, Jie, Xie, Yanyan, Bao, Jie, Gao, Yong, Dai, Erhei, Wang, Yuling   +11 more
openaire   +1 more source

Optimisation of culture conditions for a producer clone coexpressing arylsulfatase B and a formylglycine-generating enzyme in order to increase the yield of arylsulfatase B

Биопрепараты: Профилактика, диагностика, лечение, 2022
Maroteaux—Lamy syndrome (mucopolysaccharidosis type VI) is an orphan genetic disease caused by mutations in the arylsulfatase B gene (ARSB), which encodes the lysosomal enzyme arylsulfatase B (ASB).
S. S. Timonova, K. A. Smolova, I. A. Kirik, M. S. Pantyushenko, R. L. Anisimov, R. A. Khamitov, A. A. Piskunov, V. N. Bade   +7 more
doaj   +1 more source

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency [PDF]

European Journal of Human Genetics, 2011
Multiple Sulfatase Deficiency (MSD) is caused by mutations in the sulfatase-modifying factor 1 gene encoding the formylglycine-generating enzyme (FGE). FGE post translationally activates all newly synthesized sulfatases by generating the catalytic residue formylglycine. Impaired FGE function leads to reduced sulfatase activities.
Schlotawa, L, Ennemann, E C, Radhakrishnan, K, Schmidt, B, Chakrapani, A, Christen, H J, Moser, H, Steinmann, B, Dierks, T, Gärtner, J   +9 more
openaire   +4 more sources

Characterization and genomic analysis of a novel halovirus infecting Chromohalobacter beijerinckii

Frontiers in Microbiology, 2022
Bacteriophages function as a regulator of host communities and metabolism. Many phages have been isolated and sequenced in environments such as the ocean, but very little is known about hypersaline environments.
Hao Yi, Chaoqun Fu, Kaixin Diao, Zhiying Li, Xiaolong Cui, Wei Xiao   +5 more
doaj   +1 more source

miRNA-mediated alteration of sulfatase modifying factor 1 expression using self-assembled branched DNA nanostructures

, 2021
Sulfatase enzymes catalyze sulfate ester hydrolysis, thus deficiencies of sulfatases lead to the accumulation of biomolecules resulting in several disorders.
Subudhi, Umakanta, Kar, Avishek, Kumari, Kanchan, Nayak, Ashok K., Mishra, Sandip K.   +4 more
core   +1 more source

The Genetics behind Sulfation: Impact on Airway Remodeling. [PDF]

J Pers Med
In COPD, chronic inflammation and exposure to irritants, such as cigarette smoke, lead to the thickening of bronchial walls. This results from increased deposition of collagen and other extracellular matrix components, contributing to the narrowing of ...
Ntenti C, Papakonstantinou E, Fidani L, Stolz D, Goulas A.   +4 more
europepmc   +2 more sources

Prevalence of clinically actionable disease variants in exceptionally long-lived families

BMC Medical Genomics, 2020
Background Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear. Methods We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in ...
Paige Carlson, Mary K. Wojczynski, Todd Druley, Joseph H. Lee, Joseph M. Zmuda, Bharat Thyagarajan   +5 more
doaj   +1 more source

DataSheet1_Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency.PDF

, 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.
Michael H. Gelb (257901), Lars Schlotawa (12741167), David C. Rubinsztein (7546328), Low Zhe Xuan (12741158), Gentzane Sanchez-Elexpuru (12741161), Dylan Windell (12741164), Angeleen Fleming (471361), Zackary M. Herbst (3591536), Sarah V. Williams (9931409)   +8 more
core   +1 more source

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

JIMD Reports, 2019
Multiple sulfatase deficiency (MSD) is an ultra‐rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the
Lars Schlotawa, Thomas Dierks, Sophie Christoph, Eva Cloppenburg, Andreas Ohlenbusch, G. Christoph Korenke, Jutta Gärtner   +6 more
doaj   +1 more source