Page last updated: 2024-08-25

n-formylglycine and Juvenile Sulfatidosis

n-formylglycine has been researched along with Juvenile Sulfatidosis in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's4 (57.14)24.3611
2020's3 (42.86)2.80

Authors

AuthorsStudies
Adang, LA; Ahrens-Nicklas, RC; Radhakrishnan, K; Schlotawa, L1
Adang, LA; Ahrens-Nicklas, R; Friede, T; Gärtner, J; Preiskorn, J; Schiller, S; Schlotawa, L1
Adang, LA; Ahrens-Nicklas, RC; Costin, C; De Castro, M; Dierks, T; Gärtner, J; Groeschel, S; Harzer, K; Kehrer, C; Montgomery, EF; Radhakrishnan, K; Schlotawa, L; Schwartz, IVD; Silva, TO; Staretz-Chacham, O1
Babicz, M; Dierks, T; Jaszczuk, I; Koppenhöfer, D; Lejman, M; Ohlenbusch, A; Radhakrishnan, K; Schlotawa, L; Ługowska, A1
Chadah, T; Meshach Paul, D; Rajasekaran, R; Senthilkumar, B; Sethumadhavan, R1
Bernhard, O; Dierks, T; Mayer, FJ; Radhakrishnan, K; Schlotawa, L; Schmidt, B; Wachs, M1
Harasink, SM; Khurana, DS; Legido, A; Melvin, JJ; Miskin, C; Wenger, DA1

Reviews

2 review(s) available for n-formylglycine and Juvenile Sulfatidosis

ArticleYear
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
    International journal of molecular sciences, 2020, May-13, Volume: 21, Issue:10

    Topics: Glycine; Humans; Mucopolysaccharidoses; Multiple Sulfatase Deficiency Disease; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Protein Processing, Post-Translational; Sphingolipidoses; Sulfatases

2020
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6

    Topics: Glycine; Humans; Leukodystrophy, Metachromatic; Mucopolysaccharidoses; Multiple Sulfatase Deficiency Disease; Oxidoreductases Acting on Sulfur Group Donors; Protein Processing, Post-Translational; Sulfatases

2020

Other Studies

5 other study(ies) available for n-formylglycine and Juvenile Sulfatidosis

ArticleYear
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6

    Topics: Adolescent; Child; Child, Preschool; Female; Genotype; Glycine; Humans; Infant; Internationality; Leukodystrophy, Metachromatic; Male; Mucopolysaccharidoses; Multiple Sulfatase Deficiency Disease; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Phenotype; Rare Diseases; Retrospective Studies; Sulfatases

2020
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, Volume: 121, Issue:3

    Topics: Cells, Cultured; Child, Preschool; Computer Simulation; Enzymes; Glycine; Humans; Ichthyosis; Male; Multiple Sulfatase Deficiency Disease; Mutation, Missense; Oxidoreductases Acting on Sulfur Group Donors; Phenotype; Poland; Protein Processing, Post-Translational; Sulfatases

2017
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
    Journal of biomolecular structure & dynamics, 2018, Volume: 36, Issue:13

    Topics: Amino Acid Substitution; Glycine; Humans; Models, Molecular; Molecular Dynamics Simulation; Multiple Sulfatase Deficiency Disease; Mutation, Missense; Oxidoreductases Acting on Sulfur Group Donors; Protein Structure, Secondary; Sulfatases

2018
Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.
    Cell reports, 2018, 07-03, Volume: 24, Issue:1

    Topics: Amino Acid Sequence; Disulfides; Endoplasmic Reticulum; Enzyme Stability; Glycine; Humans; Multiple Sulfatase Deficiency Disease; Mutant Proteins; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Peptides; Protein Disulfide-Isomerases; Protein Folding

2018
A Patient With Atypical Multiple Sulfatase Deficiency.
    Pediatric neurology, 2016, Volume: 57

    Topics: Cerebroside-Sulfatase; Child, Preschool; Female; Glycine; Humans; Magnetic Resonance Imaging; Multiple Sulfatase Deficiency Disease; Mutation; White Matter

2016