Results 11 to 20 of about 1,596 (158)

Three-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk [PDF]

Scientific Reports
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder (LSD) caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase enzyme. MPS IVA patients suffer from skeletal dysplasia due to the abnormal function of chondrocytes.
Andrés Felipe Leal, Sampurna Saikia, Shaukat A. Khan, Shunji Tomatsu   +3 more
doaj   +3 more sources

Bone Growth Induction in Mucopolysaccharidosis IVA Mouse. [PDF]

Int J Mol Sci, 2023
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is caused by a deficiency of the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) enzyme, leading to the accumulation of glycosaminoglycans (GAG), keratan sulfate (KS) and chondroitin-6-sulfate (C6S), mainly in cartilage and bone.
Rintz E, Herreño-Pachón AM, Celik B, Nidhi F, Khan S, Benincore-Flórez E, Tomatsu S.   +6 more
europepmc   +6 more sources

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model [PDF]

Molecular Therapy: Methods & Clinical Development, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is due to the deficiency of GALNS (N-acetylgalactosamine 6-sulfate sulfatase) and is characterized by systemic skeletal dysplasia.
Kazuki Sawamoto, Subha Karumuthil-Melethil, Shaukat Khan, Molly Stapleton, Joseph T. Bruder, Olivier Danos, Shunji Tomatsu   +6 more
doaj   +3 more sources

Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA [PDF]

Current Issues in Molecular Biology
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which leads to the accumulation of chondroitin-6-sulfate and ...
Shaukat A. Khan, Eliana Benincore-Florez, FNU Nidhi, Jose Victor Álvarez, Dione A. Holder, Shunji Tomatsu   +5 more
doaj   +3 more sources

Mucopolysaccharidosis type IVA in children: Clinical cases

Кубанский научный медицинский вестник, 2022
Background. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare genetic lysosomal storage disease. Due to rarity, the syndrome is typically diagnosed at a later stage of gross affections of musculoskeletal and central nervous systems, leading to ...
A. V. Burlutskaya, N. V. Savel′eva, G. V. Naumenko   +2 more
doaj   +4 more sources

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [PDF]

Int J Mol Sci, 2020
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its ...
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S.   +6 more
europepmc   +6 more sources

Collagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA [PDF]

Current Issues in Molecular Biology
Mucopolysaccharidosis (MPS IVA) is caused by pathogenic variations in the GALNS gene, leading to the accumulation of glycosaminoglycans in tissues and causing progressive skeletal lesions.
Betul Celik, Sampurna Saikia, Shaukat Khan, Krishna Sai Musini, Shunji Tomatsu   +4 more
doaj   +3 more sources

Diagnosing mucopolysaccharidosis IVA. [PDF]

J Inherit Metab Dis, 2013
AbstractMucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory
Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ.   +21 more
europepmc   +9 more sources

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model [PDF]

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik, Estera Rintz, Shaukat Khan, Andrés Felipe Leal, Fnu Nidhi, Shunji Tomatsu   +5 more
doaj   +4 more sources

Therapies of mucopolysaccharidosis IVA (Morquio A syndrome) [PDF]

Expert Opinion on Orphan Drugs, 2013
Morquio A syndrome (mucopolysaccharidosis type IVA, MPS IVA) is one of the lysosomal storage diseases and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme leads to accumulation of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S).
Shunji Tomatsu, CARLOS J Almeciga-Díaz, Adriana M Montano   +2 more
exaly   +5 more sources