N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples

Parkinson-Lawrence, Emma J.; Muller, Viv; Hopwood, John J.; Brooks, Doug A.

doi:10.1016/j.cca.2006.08.030

Cited by 6 publications

(2 citation statements)

References 20 publications

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“…In addition to lysosome, Reactome (a knowledgebase of biological pathways and processes), text mining, and PSORT analysis of protein localization sites in cells in COMPARTMENTS resource suggested that GALNS might also be present in the extracellular space (24). A previous study by Parkinson-Lawrence et al has shown that GALNS protein could be detected in the serum from normal control but not from MPS IVA patients (34).…”

Section: Discussionmentioning

confidence: 99%

N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies

Ho¹,

Kuo

Chu

et al. 2019

Anticancer Res

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Background/Aim: The aim of this study was to evaluate as a new biomarker candidate for detecting lung cancer. Glycodelin or PAEP, the serum levels of which are known to be elevated in lung and other cancers, served as a benchmark for comparison. Patients and Methods: A total of 170 serum samples from healthy controls and patients with pneumonia, lung cancer, breast cancer, colon cancer, liver cancer, and head and neck cancer were analyzed for the levels of GALNS and PAEP by ELISA. Results: The median serum levels of GALNS and PAEP in all cancer types as well as pneumonia patients were significantly higher than those of the healthy controls. Conclusion: In addition to previously known cancers, the median serum levels of PAEP were also found to be higher in liver and head and neck cancer patients. GALNS and PAEP are promising general biomarkers for multiple cancers and deserve further evaluation.Human lung cancer is one of the most prevalent and dreadful cancers and also a major health management problem worldwide (1, 2). According to the annual statistics of the Centers for Disease Control and Prevention, it has been the 6317

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Section: Discussionmentioning

confidence: 99%

N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies

Ho¹,

Kuo

Chu

et al. 2019

Anticancer Res

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“…Mucopolysaccharidosis (MPS) IVA, also known as Morquio syndrome, is a lysosomal storage disease caused by the loss of function of the enzyme N-acetylgalactosamine-6-sulfate sulfatase, which is required for the catabolism of glycosaminoglycans (GAGs), such as keratan sulfate and chondroitin 6-sulfate [ 1 ]. Biochemically, MPS IVA is characterized by an accumulation of GAGs within lysosomes and elevated GAG crystals in the urine, blood, and cerebrospinal fluid.…”

Section: Introductionmentioning

confidence: 99%

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

Díaz-Ordóñez¹,

Candelo²,

Silva-Cuero³

et al. 2022

JMIR Res Protoc

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Background Mild to moderate hearing loss is common in patients with mucopolysaccharidosis (MPS) IVA. The hearing loss can be conductive, sensorineural, or mixed. However, in these patients, the mixed form is frequent, attributed to the combination of conductive and neurosensory elements, with slowly progressive evolution. Conductive hearing loss may be secondary to recurrent upper respiratory tract infections, serous otitis media, and deformities of the ear ossicles due to the accumulation of glycosaminoglycans (GAGs). Meanwhile, the sensorineural form is mainly attributed to the accumulation of GAGs in the auditory system. Objective The aim of this scoping review is to understand the extent and type of evidence in relation to the physiopathology, classification, epidemiology, and clinical management of hearing loss and the effect of therapy for hearing loss in patients with MPS IVA. Methods This scoping review includes participants across all genders and of no particular age group who are diagnosed with MPS IVA and develop hearing loss as a comorbidity. No exclusion criteria (country, language, or document type) will be applicable. The information sources will include experimental and quasi-experimental, analytical observational, observational, and qualitative studies. Unpublished literature will not be covered. Grey literature will be covered. A total of 2 independent reviewers will participate in the process of screening the literature, paper selection, and data extraction, and this process will be performed blindly. When all manuscripts have been selected, disagreements that arise between the 2 reviewers at each stage of the selection process will be resolved through discussion or with an additional reviewer. Results will be reported with descriptive statistics and information will be displayed in a diagrammatic or tabular manner, as explained in the JBI guidelines. Results The literature search was performed in November 2021 in MEDLINE, LILACS (Literatura Latino-Americana e do Caribe em Ciências da Saúde), the Cochrane Library, ScienceDirect, Google Scholar, and OpenGrey; a total of 780 results were retrieved. Completion of the review is expected in mid-2022. Conclusions This scoping review will be the first to describe the extent of the information regarding the development of hearing loss in the MPS IVA population. The data gathered by this review may lead to an understanding of the grade of hearing loss in this population and allow for the assessment of possible interventions according to the disease pattern. International Registered Report Identifier (IRRID) PRR1-10.2196/32986

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Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction

Menezes

Vogel

2008

Childs Nerv Syst

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The syndromes described include Chiari type I malformation, Conradi syndrome, Goldenhar syndrome, Klippel-Feil syndrome, Larsen syndrome, Morquio syndrome, Pierre-Robin syndrome, spondyloepiphyseal dysplasia congenital and Weaver syndrome. The genetic mechanisms responsible for these disorders may offer unique insight into the developmental pathways and patterning in the musculoskeletal and cranial systems and may, ultimately, guide future diagnosis and treatment.

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N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples

Cited by 6 publications

References 20 publications

N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies

N-acetylgalactosamine-6-sulfatase (GALNS), Similar to Glycodelin, Is a Potential General Biomarker for Multiple Malignancies

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction

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