Results 61 to 70 of about 4,684 (195)

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

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   +1 more source

Mutation of Structural Analysis in GALNS Enzyme associated with Mucopolysaccharidosis IVA using the Comparative Modeling Technique

, 2015
As Mucopolissacaridoses (MPS) são um grupo de doenças de armazenamento lisossômico causadas por deficiência de enzimas que catalisam a degradação gradual das glicosaminoglicanas (GAGs). GAGs (anteriormente chamadas de mucopolissacarídeos) são produtos de
Érico Torrieri, Torrieri, Érico
core   +1 more source

Characterization of Lysosomal Hydrolases and Transporters and Their Age‐Dependent Variability: Relevance to Drug Metabolism and Transport of Small Molecule and Biologic Drugs

Clinical Pharmacology &Therapeutics, EarlyView.
Lysosomes play a key role in the accumulation, catabolism, and transport of endogenous and exogenous metabolites and proteins and are involved in drug metabolism and prodrug activation. However, the protein abundance and interindividual variability of lysosomal drug‐metabolizing enzymes and transporters (DMETs) remain underexplored.
Darshak Gadara, Dilip Kumar Singh, Sandhya Subash, Guihua Yue, Deepak Ahire, Chris Bohl, Maciej Czerwinski, Stephanie Helmstetter, Scott Heyward, Robert S. Jones, Cyrus Khojasteh, Ryota Kikuchi, Priyanka Kulkarni, Bin Ma, Bernard Murray, Chris Seib, Bill Smith, David M. Stresser, Mitchell E. Taub, Ting Wang, Bhagwat Prasad   +20 more
wiley   +1 more source

Degradable versus inert microplastics: Effects on soil organic carbon persistence via microbial drivers in an agroecosystem

Functional Ecology, EarlyView.
Read the free Plain Language Summary for this article on the Journal blog. Abstract Microplastics (MPs) are widespread in terrestrial ecosystems, raising global concerns that they may disrupt soil organic carbon (SOC) cycling and undermine agroecosystem contributions to climate mitigation.
Meng‐Ying Li, Wei Wang, Yue Ma, Jia‐Yao Yang, Shu‐Tong Liu, Xiao‐Bin Xiong, Tingting Zhao, Yuanze Sun, Saddam Saqib, Muhammd Ashraf, Matthias C. Rillig, You‐Cai Xiong   +11 more
wiley   +1 more source

Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: Implication in Morquio A disease

Diagnostic Pathology, 2011
Mucopolysaccharidosis type IVA or Morquio A syndrome is characterized by the lack of N-acetylgalactosamine-6-sulfate-sulfatase and the accumulation of keratan sulfate and chondroitin-6-sulfate in the lysosomes.
Chkioua Latifa, Khedhiri Souhir, Ferchichi Salima, Miled Abdelhedi, Laradi Sandrine   +4 more
doaj   +1 more source

Clinical and genetic characteristics of concomitant Mucopolysaccharidosis type IVA and neurogenic bladder in children: two case reports and literature review

BMC Pediatrics, 2021
Background Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder. Up to now, reports on the clinical characteristics of MPS IVA mainly focused on patients with progressive bone dysplasia and ...
Zhuhui Ge, Jianhua Mao, Huijun Shen, Yu Xu, Haidong Fu, Weiwei Zhang, Dongyan Li   +6 more
doaj   +1 more source

Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

Frontiers in Genetics, 2023
Mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders (LSDs). MPSs are caused by excessive accumulation of mucopolysaccharides due to missing or deficiency of enzymes required for the degradation of specific macromolecules. MPS I-IV, MPS
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Annete P. Gjesing, Mulazim Hussain, Muhammad Tufail, Muhammad Saqib, Muhammad Saqib, Kiran Afshan, Torben Hansen   +13 more
doaj   +1 more source

From hepatic to hematopoietic: LRH‐1's expanding cellular repertoire to the immune system

The FEBS Journal, EarlyView.
The nuclear receptor LRH‐1 is a well‐characterized regulator of endodermal tissue. Yet, increasing evidence indicates that LRH‐1, although expressed at low levels, is also a critical regulator of the hematopoietic system. LRH‐1 regulates the immune system by contributing to immune cell‐specific functions.
Lukas Meisinger, Alice Wiedmann, Rayan Hassan M. Elshikhidriss, Thomas Brunner   +3 more
wiley   +1 more source

Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies

, 2022
In this report, we describe phenotypic features of a patient with mucopolysaccharidosis type IVA (Morquio syndrome) harboring a novel exon 1 deletion in GALNS with enzymatic confirmation consistent with Morquio syndrome.
Jain, Angita, Ahuja, Abhimanyu S., Cheema, Anvir, Abbott, Jessica, Bruno, Katelyn A., Atwal, Paldeep S., Selvam, Pavalan, Caulfield, Thomas, Forghani, Irman, Atwal, Herjot   +9 more
core   +1 more source