Results 101 to 110 of about 42,616 (247)

Fitusiran treatment modulates the ratio between alpha‐ and beta‐antithrombin isoforms

HemaSphere, Volume 10, Issue 5, May 2026.
Abstract Antithrombin (AT) circulates as two distinct isoforms, alpha‐ and beta‐AT, which differ in their glycosylation profiles; alpha‐AT is fully glycosylated at positions Asn128, Asn167, Asn187, and Asn224, whereas beta‐AT lacks Asn167 glycosylation.
Geneviève McCluskey, Hortense Maynadié, Delphine Borgel, Laurent Frenzel, Annie Harroche, Elsa Bianchini, Stephanie Roullet, Olivier D. Christophe, Cecile V. Denis, Caterina Casari, Peter J. Lenting   +10 more
wiley   +1 more source

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon‐Optimized hGLA cDNA Results in Long‐Term Disease Correction

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Himanshi Saxena, Rossana Domenis, Giulia Romano, Jessica Biasizzo, Martina Ferro, Dania Ferino, Antonio Vicidomini, Alessandra Iaconcig, Giulia Bortolussi, Lorena Zentilin, Andrea Dardis, Andrés F. Muro   +11 more
wiley   +1 more source

A rare case of alpha 1-antitrypsin deficiency associated with hypogammaglobulinemia and recurrent pulmonary thrombosis

Annals of Thoracic Medicine, 2014
Alpha 1-antitrypsin (AAT) belongs to the family of serpins (serine protease inhibitors). Loop sheet polymerization is the pathology behind serpinopathies which encompasses AAT, anti-thrombin III and neuroserpin deficiency.
Raghav Gupta, Srilekha Sridhara, John A Wood   +2 more
doaj   +1 more source

Protein changes as robust signatures of fish chronic stress: a proteomics approach to fish welfare research [PDF]

, 2020
Background Aquaculture is a fast-growing industry and therefore welfare and environmental impact have become of utmost importance. Preventing stress associated to common aquaculture practices and optimizing the fish stress response by ...
Cerqueira, Marco, Farinha, Ana Paula, Kuehn, Annette, Planchon, Sébastien, Raposo de Magalhães, Cláudia, Revets, Dominique, Rodrigues, Pedro, Schrama, Denise   +7 more
core  

Preliminary evidence of improved liver biomarkers in adolescents with obesity and suspected metabolic dysfunction‐associated steatotic liver disease treated with semaglutide: A case series

JPGN Reports, Volume 7, Issue 2, Page 349-354, May 2026.
Abstract Metabolic dysfunction‐associated steatotic liver disease (MASLD) affects 30%–40% of youth with obesity and lacks approved pharmacologic therapies. In this single‐center retrospective case series at a tertiary care safety‐net children's hospital, we evaluated five adolescents (mean age: 17.0 years; 100% Hispanic; 60% male; mean body mass index:
Rachel Schenker, Katya Fomenko, Fotini T. Mitsinikos, Alaina P. Vidmar   +3 more
wiley   +1 more source

The delay effect of sulfur mustard gas on phenotype and plasma alpha-1-antitrypsin activity in war victim patients

مجله دانشگاه علوم پزشکی گرگان, 2010
Background and Objective: Alpha-1 antitrypsin deficiency is recognized as a etiological base in lung injury. Therefore this study was performed to determine plasma level of alpha-1 antitrypsin in war victims exposed to sulfur mustard gas.
Majid Shohrati (PhD), Navvab Shamspour (MSc), Afshin Mohsenifar (PhD), Mostafa Ghanei (MD)   +3 more
doaj  

Key inflammatory pathway activations in the MCI stage of Alzheimer's disease [PDF]

, 2019
OBJECTIVE: To determine the key inflammatory pathways that are activated in the peripheral and CNS compartments at the mild cognitive impairment (MCI) stage of Alzheimer's disease (AD).
Bekris, Lynn M., Bena, James, Chance, Mark, Lamb, Bruce T., Leverenz, James B., Maxwell, Sean, Pillai, Jagan A., Rao, Stephen M.   +7 more
core   +2 more sources

Hepatopulmonary syndrome as presentation of pediatric metabolic dysfunction‐associated steatohepatitis

JPGN Reports, Volume 7, Issue 2, Page 362-365, May 2026.
Abstract Childhood obesity is rising and leading to serious co‐morbidities, among which is metabolic dysfunction‐associated steatotic liver disease (MASLD) predisposing individuals to cirrhosis. We describe a young 11‐year‐old Hispanic male who presented with hepatopulmonary syndrome secondary to cirrhotic portal hypertension from metabolic dysfunction‐
Shruti Sakhuja, Stacey S. Beer, Kalyani R. Patel, Alexiss M. Williams, Nhu Thao Galvan, John A. Goss, Krupa R. Mysore   +6 more
wiley   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, Volume 7, Issue 2, Page 266-270, May 2026.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Serum Alpha-1 Antitrypsin Levels and the Clinical Course of Chronic Obstructive Pulmonary Disease

International Journal of COPD, 2019
Nozomu Takei,1,* Masaru Suzuki,1,* Hironi Makita,2 Satoshi Konno,1 Kaoruko Shimizu,1 Hiroki Kimura,1 Hirokazu Kimura,1 Masaharu Nishimura1,2 1Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University ...
Takei N, Suzuki M, Makita H, Konno S, Shimizu K, Kimura H, Kimura H, Nishimura M   +7 more
doaj