Results 51 to 60 of about 1,641 (186)

Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism [PDF]

Journal of Clinical Investigation, 2011
Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine.
Prashiela, Manga, Seth J, Orlow
openaire   +2 more sources

Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism [PDF]

, 2014
Purpose.Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in ...
Anderson, Jennifer L., Anderson, Jennifer L., Briliant, Murray H., Carroll, Joseph, Chiang, Pei-Wen, Connor, Thomas B., Jr., Cooper, Robert F., Costakos, Deborah M., Curcio, Christine A., Dubis, Adam M., Dubra, Alfredo, McAllister, John T., Patitucci, Teresa N., Summerfelt, Phyllis, Summers, C. Gail, Wilk, Melissa A., Wirostko, William J.   +16 more
core   +2 more sources

Tyrosinemia type I: an unusual case presentation

Journal of Biochemical and Clinical Genetics, 2022
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj   +1 more source

Imaging and CSF analyses effectively distinguish CJD from its mimics [PDF]

, 2017
OBJECTIVE: To review clinical and investigation findings in patients referred to a specialist prion clinic who were suspected to have sporadic Creutzfeldt-Jakob disease (sCJD) and yet were found to have an alternative final diagnosis. METHODS: Review the
Collinge, J, Green, A, Hyare, H, Mead, S, Rudge, P   +4 more
core   +1 more source

Method development and validation for analysis of phenylalanine, 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid in serum and urine

JIMD Reports, 2022
Alkaptonuria (AKU) is a rare debilitating autosomal recessive disorder of tyrosine (TYR) metabolism which results in a deficiency of the enzyme homogentisate 1,2‐dioxygenase activity.
Andrew T. Hughes, Anna M. Milan, Ella Shweihdi, James Gallagher, Lakshminarayan Ranganath   +4 more
doaj   +1 more source

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene
Kostovski Aco, Zdraveska Nikolina, Tesarova Marketa, Zeman Jiři   +3 more
doaj   +1 more source

Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre [PDF]

Molecular Genetics and Metabolism, 2018
Does Nitisinone prevent the clinical progression of the Alkaptonuria?In this observational study on 39 patients, 2 mg of daily nitisinone inhibited ochronosis and significantly slowed the progression of AKU over a three-year period.Nitisinone is a beneficial therapy in Alkaptonuria.Nitisinone decreases homogentisic acid (HGA), but has not been shown to
L.R. Ranganath, M. Khedr, A.M. Milan, A.S. Davison, A.T. Hughes, J.L. Usher, S. Taylor, N. Loftus, A. Daroszewska, E. West, A. Jones, M. Briggs, M. Fisher, M. McCormick, S. Judd, S. Vinjamuri, R. Griffin, E.E. Psarelli, T.F. Cox, N. Sireau, J.P. Dillon, J.M. Devine, G. Hughes, J. Harrold, G.J. Barton, J.C. Jarvis, J.A. Gallagher   +26 more
openaire   +2 more sources

Increased prevalence of Parkinson's disease in alkaptonuria

JIMD Reports, 2023
Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD).
Lakshminarayan Ranganath, Milad Khedr, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Mirian C. H. Janssen, Edward Lock, George Bou‐Gharios, James A. Gallagher   +8 more
doaj   +1 more source

HPD is an m6A Methyltransferase that Protects Colorectal Cancer Cells from Ferroptotic Cell Death by m6A Methylating SLC7A11/GPX4

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang, Xintong Dai, Huanle Liu, Saiwei Hua, Hongkai Chang, Huanran Sun, Mingming Sun, Huifang Zhao, Kemin Ni, Fei Xie, Yaya Qiao, Qingle Gao, Chenxi Yu, Qijun Zhang, Jianshuang Guo, Chunze Zhang, Shuai Zhang, Changliang Shan   +17 more
wiley   +1 more source

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular Therapy: Methods & Clinical Development, 2022
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source