Results 31 to 40 of about 955 (143)

Producción de la enzima recombinante N-acetilgalactosamina-6- sulfato sulfatasa sin péptido señal (GALNSNSP) en Pichia pastoris mediante coexpresión con el gen SUMF1 [PDF]

, 2013
La enfermedad de Morquio A es un error innato del metabolismo causado por la acumulación lisosomal de los glicosaminoglicanos queratán sulfato y condroitin-6- sulfato debido a la deficiencia de la enzima N-acetilgalactosamida-6-sulfato sulfatasa (GALNS).
Pardo Diazgranados, Andrea Leonor
openaire   +2 more sources

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

The Turkish Journal of Pediatrics, 2014
Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases.
Banu Güzel Nur, Ercan Mıhçı, Stefano Pepe, Gürsel Biberoğlu, Fatih Süheyl Ezgü, Andrea Ballabio, Osman Öztekin, Oğuz Dursun   +7 more
doaj   +4 more sources

<i>SUMF1</i> Common Variant rs793391 Is Associated with Response to Inhaled Corticosteroids in Patients with COPD. [PDF]

Int J Mol Sci
This study investigated whether specific sulfatase modifying factor-1 (SUMF1) SNPs—previously linked to lung function—are associated with COPD progression and response to inhaled corticosteroid (ICS) treatment, specifically budesonide, given that SUMF1 expression is altered in COPD and its variants linked to increased disease risk.
Ntenti C, Papakonstantinou E, Grize L, Pascarella M, Frye BC, Fähndrich S, Ioannidou D, Savic Prince S, Goulas A, Stolz D.   +9 more
europepmc   +4 more sources

SUMF1 Gene [PDF]

, 2020
openaire   +2 more sources

SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma. [PDF]

Aging (Albany NY)
Glioma is a prevalent type of malignant tumor. To date, there is a lack of literature reports that have examined the association between sulfatase modifying factor 1 (SUMF1) and glioma.The levels of SUMF1 were examined, and their relationships with the diagnosis, prognosis, and immune microenvironment of patients with glioma were investigated.
Zhang P, Liu Z, Wang YY, Luo HJ, Yang CZ, Shen H, Wu HT, Li JH, Zhao HX, Ran QS.   +9 more
europepmc   +3 more sources

Association of SUMF1, IREB2, FKBP5 and GLCCΙ1 gene polymorphisms with clinical phenotype, disease progression, and response to glucocorticoid treatment in chronic obstructive pulmonary disease

Αυτή η διδακτορική διατριβή ερευνά τη γενετική βάση της εξέλιξης της Χρόνιας Παθητικής Πνευμονοπάθειας (ΧΑΠ) και τη διαφορετική ανταπόκριση στη θεραπεία, εστιάζοντας σε πολυμορφισμούς εντός των γονιδίων IREB2, SUMF1, FKBP5, και GLCCI1. Η ΧΑΠ, κύρια αιτία ασθενείας και θανάτου παγκοσμίως, χαρακτηρίζεται από μόνιμη περιορισμένη ροή αέρα και αυξημένη ...
Ντέντη, Χαρίκλεια, Ntenti, Charikleia   +1 more
openaire   +2 more sources

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency. [PDF]

Mol Ther
Multiple sulfatase deficiency (MSD) is a severe, lysosomal storage disorder caused by pathogenic variants in the gene SUMF1, encoding the sulfatase modifying factor formylglycine-generating enzyme. Patients with MSD exhibit functional deficiencies in all
Pham V, Tricoli L, Hong X, Wongkittichote P, Castruccio Castracani C, Guerra A, Schlotawa L, Adang LA, Kuhs A, Cassidy MM, Kane O, Tsai E, Presa M, Lutz C, Rivella SB, Ahrens-Nicklas RC.   +15 more
europepmc   +2 more sources

Proteome and immune responses of extracellular vesicles derived from macrophages infected with the periodontal pathogen Tannerella forsythia

Journal of Extracellular Vesicles, Volume 12, Issue 12, December 2023., 2023
Abstract Periodontitis is a chronic inflammatory disease caused by periodontal pathogens in subgingival plaque and is associated with systemic inflammatory diseases. Extracellular vesicles (EVs) released from host cells and pathogens carry a variety of biological molecules and are of interest for their role in disease progression and as diagnostic ...
Younggap Lim, Hyun Young Kim, Dohyun Han, Bong‐Kyu Choi   +3 more
wiley   +1 more source

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Molecular Genetics &Genomic Medicine, Volume 11, Issue 12, December 2023., 2023
ELOVL4‐related ichthyosis, spastic quadriplegia and mental retardation (ISQMR) is a rare autosomal recessive disorders characterized by ichthyosis with neurological features. Only five families with ISQMR with biallelic single‐nucleotide variants have been described date and no families with copy number variants (CNVs) have been described.
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi   +18 more
wiley   +1 more source

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

JIMD Reports, 2021
Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimaging findings ...
Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer   +9 more
doaj   +1 more source