Results 81 to 90 of about 45,966 (272)

Gut–Metabolome–Proteome Interactions in Age‐Related Hearing Loss: Insights from Fecal Microbiota Transplantation and Multi‐Omics Analyses

open access: yesAdvanced Science, EarlyView.
Germ‐free (GF) mice receiving fecal microbiota transplantation (FMT) reveal microbiota‐dependent effects on auditory aging. Integrated metagenomic, metabolomic and proteomic profiling maps gut–inner ear network and highlights 5‐hydroxytryptophan (5‐HTP) as a microbiota‐linked metabolic hub in age‐related hearing loss (ARHL).
Ting Yang   +12 more
wiley   +1 more source

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

open access: yesOrphanet Journal of Rare Diseases, 2010
Background The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficult tissues and have low cost ...
Correra Antonella   +4 more
doaj   +1 more source

Structural genomics analysis of uncharacterized protein families overrepresented in human gut bacteria identifies a novel glycoside hydrolase. [PDF]

open access: yes, 2014
BackgroundBacteroides spp. form a significant part of our gut microbiome and are well known for optimized metabolism of diverse polysaccharides. Initial analysis of the archetypal Bacteroides thetaiotaomicron genome identified 172 glycosyl hydrolases and
Axelrod, Herbert L   +7 more
core   +2 more sources

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

open access: yesAdvanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang   +8 more
wiley   +1 more source

Might Be Fabry Disease?

open access: yesTurkish Journal of Internal Medicine, 2020
Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of ...
Aysegul Oruc
doaj  

Identification and Clinical Characterization of a Novel Alpha-Galactosidase A Mutation

open access: yesJournal of Inborn Errors of Metabolism and Screening, 2014
Fabry disease (FD) is an inborn error of metabolism characterized by deficient/absent activity of lysosomal enzyme alpha-galactosidase A, which results in systemic accumulation of glycosphingolipids and progression to renal failure, heart and ...
Nilton Salles Rosa Neto MD, PhD
doaj   +1 more source

Effective Management of Flatulence [PDF]

open access: yes, 2009
Probiotics and rifaximin (Xifaxan) have been shown to reduce total number of flatus episodes and associated discomfort. (Strength of Recommendation [SOR]: B, based on small randomized controlled trials [RCTs]).
Bailey, Justin, Carter, Nakia Joyce
core  

Neurological complications of Anderson-Fabry disease [PDF]

open access: yes, 2013
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females ...
Arnao, Valentina   +6 more
core   +1 more source

Targeting Lactate and Lactylation in Cancer Metabolism and Immunotherapy

open access: yesAdvanced Science, EarlyView.
Lactate, once deemed a metabolic waste, emerges as a central regulator of cancer progression. This review elucidates how lactate and its epigenetic derivative, protein lactylation, orchestrate tumor metabolism, immune suppression, and therapeutic resistance.
Jiajing Gong   +5 more
wiley   +1 more source

Present status on removal of raffinose family oligosaccharides - a Review

open access: yesCzech Journal of Food Sciences, 2019
Raffinose family oligosaccharides (RFOs) are α-galactosyl derivatives of sucrose or glucose. They are found in a large variety of seeds from many different families such as beans, vegetables and whole grains.
Jian Zhang   +5 more
doaj   +1 more source

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