Disease on EC 1.8.3.7 - formylglycine-generating enzyme

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DISEASE
TITLE OF PUBLICATION
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arylsulfatase deficiency
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
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 analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Breast Neoplasms
Genome-wide expression analysis reveals six contravened targets of EZH2 associated with breast cancer patient survival.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
Leukodystrophy, Metachromatic
AAV1 Mediated Co-expression of Formylglycine-Generating Enzyme and Arylsulfatase A Efficiently Corrects Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy.
Coexpression of Formylglycine-Generating Enzyme Is Essential for Synthesis and Secretion of Functional Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy.
Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy.
Mucopolysaccharidosis IV
Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
Elosulfase alfa.
Multiple Sulfatase Deficiency Disease
A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.
A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder.
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 analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.
Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.
[Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Neoplasms
Genome-wide expression analysis reveals six contravened targets of EZH2 associated with breast cancer patient survival.
Nervous System Diseases
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.
Neurologic Manifestations
Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.
Osteoporosis
High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.
Pulmonary Disease, Chronic Obstructive
Expression, activity and localization of lysosomal sulfatases in Chronic Obstructive Pulmonary Disease.
Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.
Spinocerebellar Ataxias
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.