Results 91 to 100 of about 1,688 (193)

Electron-vibration-vibration two-dimensional infrared spectroscopy: a tool to investigate interactions in plant proteins and mammalian peptides [PDF]

, 2019
The structural elucidation and characterisation of biomolecular complexes is crucial to both the agrichemical and pharmaceutical industries. Understanding the specific interactions that govern protein-inhibitor interactions enables more intelligent ...
Sim, Sophie Anne
core   +1 more source

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Molecular Genetics & Genomic Medicine, 2019
Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva   +9 more
doaj   +1 more source

An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria

Journal of Cellular Physiology, Volume 239, Issue 12, December 2024.
Abstract Alkaptonuria (AKU) is a progressive systemic inherited metabolic disorder primarily affecting the osteoarticular system, characterized by the degeneration of cartilage induced by ochronosis, ultimately leading to early osteoarthritis (OA).
Pierfrancesco Mastroeni, Michela Geminiani, Tommaso Olmastroni, Luisa Frusciante, Alfonso Trezza, Anna Visibelli, Annalisa Santucci   +6 more
wiley   +1 more source

Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase [PDF]

Bioinformation, 2017
Alkaptonuria is an inherited disease that is caused by homogenticate accumulation. Deficiency or mutation in Homogentisate 1,2 dioxygenase gene (chromosome 3q21-q23) leads to production of incorrectly folded or truncated enzyme. Several studies indicated that competitive inhibitors of Homogentisate 1,2 dioxygenase like Nitisinone could be used for ...
openaire   +2 more sources

Evaluation of a casein glycomacropeptide‐based protein substitute, in the dietary management of NTBC‐induced tyrosinaemia in patients with alkaptonuria: A prospective open‐label study

Journal of Human Nutrition and Dietetics, Volume 37, Issue 6, Page 1496-1504, December 2024.
A low tyrosine casein glycomacropeptide‐based protein substitute offers an alternative choice to amino acid–based protein substitutes for the dietary management of NTBC‐induced tyrosinaemia in patients with alkaptonuria (AKU) in terms of adherence, gastrointestinal tolerance and metabolic control. Abstract Background 2‐(2‐Nitro‐4‐trifluoromethylbenzoyl)
Shirley Judd, Ali Hutton, Grace Thomas, Heather Hill   +3 more
wiley   +1 more source

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 [PDF]

, 2019
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an ...
Harding, Cary O, Heiner-Fokkema, M Rebecca, Hollak, Carla E M, Rodenburg, Iris L, van Ginkel, Willem G, van Spronsen, Francjan J   +5 more
core   +1 more source

Exploring the Potential and Challenges of CRISPR Delivery and Therapeutics for Genetic Disease Treatment

Advanced Functional Materials, Volume 34, Issue 38, September 18, 2024.
The review outlines CRISPR's historical progression and highlights advancements in gene editing methods and delivery vehicles. It discusses CRISPR's therapeutic applications for genetic diseases affecting multiple systems like the muscular, cardiovascular, and neurological systems with a focus on inherited blood disorders and eye diseases.
Xinpu Yang, Thuy Anh Bui, Haoqi Mei, Yagiz Alp Aksoy, Fei Deng, Gyorgy Hutvagner, Wei Deng   +6 more
wiley   +1 more source

Age related deviation of gait from normality in alkaptonuria. [PDF]

Alkaptonuria is a rare metabolic disease leading to systemic changes including early and severe arthropathy which affects mobility. Due to unknown reasons, the onset of degenerative changes is delayed to around 30 years of age when both objective and ...
Barton, GJ, Hawken, MB, King, SL, Ranganath, LR, Robinson, MA   +4 more
core  

Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

Journal of Pediatric Research, 2018
Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular
Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker   +6 more
doaj   +1 more source

ALKAPTONURIA SYNDROME-A REVIEW [PDF]

, 2022
Alkaptonuria, also called endogenous ochronosis, and also called as Black Urine Disease, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues ...
AMURUTHAVALLI, B., CHANDRA, P. UJWALA RAMA, DEVI, G. SIREESHA, RANI, V. USHA, RAO, M. TRINADHA   +4 more
core   +1 more source