Ask about this productRelated genes to: SGSH antibody
- Gene:
- SGSH NIH gene
- Name:
- N-sulfoglucosamine sulfohydrolase
- Previous symbol:
- -
- Synonyms:
- HSS, MPS3A, SFMD
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 1997-06-24
- Date modifiied:
- 2015-09-02
Related products to: SGSH antibody
Related articles to: SGSH antibody
- Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders caused by deficiencies in glycosaminoglycan (GAG)-degrading enzymes, leading to progressive multisystem involvement. We evaluated two unrelated consanguineous Pakistani families, each with three individuals showing features consistent with MPS. Affected individuals in Family 1 presented with developmental regression, severe cognitive impairment, behavioral abnormalities and facial dysmorphisms. The affected individuals in Family 2 showed classical skeletal dysplasia consistent with Morquio syndrome. Whole-exome sequencing (WES), segregation analysis, and in silico protein modeling were performed to identify and characterize pathogenic gene variants. Analysis of WES data revealed a homozygous missense variant in the gene [c.548G>A (p.Cys183Tyr)] in the three cases of Family 1 and a homozygous splice-site variant in the gene (c.423-1G>A) in the cases of Family 2. The variant, located within the sulfatase catalytic domain and classified as likely pathogenic (ACMG), is consistent with the Sanfilippo A phenotype and represents the first clinical characterization of this allele. Regarding Family 2, we identified the mutation as a recurrent pathogenic founder allele previously reported in individuals of South Asian descent. Structural modeling of p.Cys183Tyr predicted disruption of a conserved cysteine residue and altered protein stability, likely supporting its deleterious effect. This study expands the spectrum of MPS-associated variants in Pakistan. The findings underscore the importance of genomic diagnostics for enabling early detection, accurate classification, and genetic counseling in populations with high consanguinity. - Source: PubMed
Publication date: 2026/03/31
Awan Farheen NasirZulfiqar ShumailaEiman LizaAsif MariaHussain Muhammad SajidDahl NiklasBaig Shahid MahmoodOda Hirotsugu - Androgenetic alopecia (AGA), though traditionally attributed to androgens and genetics, is increasingly linked to immune and inflammatory pathways. Allergic rhinitis (AR) and AGA may share overlapping mechanisms, including prostaglandin signaling abnormalities. Second-generation H1-antihistamines (sgSH), used to treat AR, have anti-inflammatory and immunomodulatory properties and may influence hair follicle biology. This study aimed to determine the association between AR and the risk of AGA and to explore whether the use of sgSH impacts this risk. - Source: PubMed
Publication date: 2026/04/18
Zhang Han-WeiChang Ya-TingKuo Yi-JieChen Yu-PinLin Yu-ShanTsai Fuu-Jen - The potency assay is critical to ensure the effectiveness and consistency of recombinant Adeno-associated Virus (AAV) gene therapy vectors, especially clinical-grade products. AAV serotype 9 (AAV9), known for its neurotropic properties and ability to cross the blood-brain barrier, has been a favored vector for targeting neurogenetic diseases. However, assessing AAV9 biopotency has been challenging due to the insusceptibility of the commonly used cell lines to AAV9. To address this, we utilized a cell-based potency assay using the liver-derived human hepatoma (HuH-7) cell line to evaluate infection by self-complementary (sc)-AAV9 vector expressing human N-sulfoglucosamine sulfohydrolase (hSGSH), currently undergoing evaluation as a potential treatment for Mucopolysaccharidosis (MPS) IIIA. The potency of various scAAV9-hSGSH vector batches was tested in HuH-7 cells which reproducibly expressed the transgene, resulting in measurable SGSH production. The SGSH expression and vector genome copies of various vector batches correlated linearly with the viral vector dose (R2 = 0.71-0.95), indicating a generally strong correlation. The reproducibility of the assay was demonstrated by consistent vector copy numbers and SGSH activity in transduced cells across multiple independent runs. Statistical analysis of the results showed high reliability, with relative intra-assay consistency showing a coefficient of variation (CV) of less than 20%) and inter-assay reproducibility with a CV of less than 25%) affirming the precision of the test. Additionally, our data also demonstrate that long-term (>2.5 years) storage at 2-4°C had no impact on the biopotency of rAAV9 vector confirming long-term stability of the vectors. Hence, we have effectively assessed the biopotency of rAAV9 vector in vitro utilizing HuH-7 cells. Overall, this in vitro assay provides a practical and reliable method to assess AAV9 potency, offering a valuable alternative to animal models and supporting the functional quality and consistency of AAV9 gene therapy vector products in general. - Source: PubMed
Publication date: 2026/02/26
Adhikari PratikshyaNichols Peter GVorobiov Stephen MBobo Tierra AFu Haiyan - Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive lysosomal storage disorder characterized by progressive central nervous system degeneration and behavioral abnormalities. Type A is caused by a deficiency of . This case report presents the first documented case of Sanfilippo syndrome type A (MPS IIIA) with a homozygous c.571G > A mutation, associated with severe acute metabolic acidosis. Despite an extensive scoping review, no similar cases were found, highlighting the novelty of this report. - Source: PubMed
Publication date: 2026/02/26
Zou HaiyingYang LiQin YaoZhang Renlong - Parsing the functions of the tumor suppressor tumor protein p53 (TP53) is complex due to the multiple isoforms it encodes. ∆40p53, an N-terminally truncated p53 isoform and the only translational isoform, modulates full-length p53 (FLp53) activity and independently regulates targets such as the miR-186-5p/transcriptional repressor protein YY1 axis. To identify additional miRNAs regulated by ∆40p53, we performed small RNA sequencing. We found that ectopic overexpression of ∆40p53, but not FLp53, significantly downregulated miR-4671-5p. Expression of both isoforms at varying ratios revealed that miR-4671-5p may be modulated by FLp53 in a ∆40p53-dependent manner. In silico analysis identified N-sulfoglucosamine sulfohydrolase (SGSH) as a potential miR-4671-5p target. SGSH expression showed an inverse correlation with miR-4671-5p in cancer datasets and had prognostic significance. SGSH mRNA and protein levels were reduced upon miR-4671-5p overexpression or si∆40p53 treatment, confirming regulatory linkage. Functionally, miR-4671-5p overexpression induced intra-S-phase cell cycle arrest, implicating SGSH in cell cycle regulation. These results reveal a previously unknown ∆40p53/miR-4671-5p/SGSH axis that, when dysregulated, induces intra-S-phase cell cycle arrest and may contribute to cancer outcomes. Our findings highlight the distinct regulatory role of ∆40p53, independent of FLp53, in maintaining cellular and metabolic homeostasis via miRNA-mediated mechanisms. - Source: PubMed
Publication date: 2026/02/19
Pal ApalaGhosh Pritam KumarGhosh SahanaTripathi Sachin KumarPatra SubrataKhan DebjitMaitra ArindamDas Saumitra