Results 161 to 170 of about 4,684 (195)

Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database

Human Mutation, 2014
Morquio A syndrome (mucopolysaccharidosis IVA) is an autosomal recessive disorder that results from deficient activity of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS) due to alterations in the GALNS gene, which causes major skeletal and ...
Amelia Morrone, Anna Caciotti, Kathryn Davidson   +2 more
exaly   +3 more sources

Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family

Genes, 2022
Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS).
Karina Da Costa Silveira, Raheel Qamar, Maleeha Azam   +2 more
exaly   +2 more sources

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

Human Mutation, 2015
Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS), encoded by the GALNS gene.
Anna Caciotti, Rodolfo Tonin, Miriam Rigoldi   +2 more
exaly   +1 more source

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants [PDF]

Human Mutation, 2021
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene.
Alessandra Zanetti, Francesca D’Avanzo, Moeenaldeen Alsayed   +2 more
exaly   +2 more sources

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Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)

Human Mutation, 2005
Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal-recessive disorder caused by a deficiency of lysosomal N-acetylgalactosamine-6-sulfate sulfatase (GALNS; E.C.3.1.6.4). GALNS is required to degrade glycosaminoglycans, keratan sulfate (KS), and chondroitin-6-sulfate. Accumulation of undegraded substrates in lysosomes of the affected
Shunji Tomatsu, Adriana M Montano, Mónica A Gutierrez   +2 more
exaly   +3 more sources

Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

Human Mutation, 2004
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed by RT-PCR with one amplicon and direct sequence analyses
Shunji Tomatsu, Mirella Filocamo, Mónica A Gutierrez   +2 more
exaly   +2 more sources

Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene

Human Mutation, 1997
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by a deficiency of the lysosomal N-acetylgalactosamine-6-sulfate sulfatase. Here, we report our analysis of data on 21 patients of diverse ethnic and geographic origins studied by SSCP and sequencing analysis.
Shunji Tomatsu, Seiji Fukuda, Paola Di Natale   +2 more
exaly   +3 more sources

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

American Journal of Medical Genetics Part A, 2014
ABSTRACTMucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA.
Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R. Phadke, Seema Kapoor, Mahesh Kamate, I.C. Verma, Ratna Dua Puri, V.H. Sankar, A. Radha Rama Devi, S.J. Patil, Prajnya Ranganath, S. Jamal Md Nurul Jain, Meenal Agarwal, Ankur Singh, Pallavi Mishra, Parag M. Tamhankar, Puthiya Mundyat Gopinath, H.A. Nagarajaram, Kapaettu Satyamoorthy, Katta Mohan Girisha   +26 more
openaire   +2 more sources

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene

Human Mutation, 2002
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4).
Mugen Terzioglu
exaly   +2 more sources

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA

American Journal of Medical Genetics Part A, 2013
AbstractMucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate. In this study, we examined biochemical and genetic data from 6 Korean patients presenting with classic MPS IVA by measuring GALNS ...
Hyung-Doo, Park, Ah-Ra, Ko, Chang-Seok, Ki, Soo-Youn, Lee, Jong-Won, Kim, Sung Yoon, Cho, Se Hwa, Kim, Sung Won, Park, Young Bae, Sohn, Dong-Kyu, Jin   +9 more
openaire   +2 more sources