Results 81 to 90 of about 3,274 (204)
Girl With Tyrosinemia Type 1 and Executive Dysfunctions Treated With Methylphenidate
Journal of Inborn Errors of Metabolism and Screening, 2018 Hereditary tyrosinemia type 1 (HT1; OMIM 27670) is an inborn error of tyrosine metabolism, caused by a deficiency of the enzyme fumarylacetoacetate hydrolase.
Annik Simons MD +4 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 The effectiveness of cell-based therapies to treat liver failure is often limited by the diseased liver environment. Here, we provide preclinical proof of concept for hepatocyte transplantation into lymph nodes as a cure for liver failure in a large ...
Clara T. Nicolas +23 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 +3 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Hereditary tyrosinemia type I (HT1) results from the loss of fumarylacetoacetate hydrolase (FAH) activity and can lead to lethal liver injury (LLI). Therapeutic options for HT1 remain limited.
Peng Gu +12 more
doaj +1 more source
Family-specific scaling laws in bacterial genomes [PDF]
, 2017 Among several quantitative invariants found in evolutionary genomics, one of the most striking is the scaling of the overall abundance of proteins, or protein domains, sharing a specific functional annotation across genomes of given size.
de Lazzari, Eleonora +3 more
core +3 more sources
Journal of Cellular and Molecular Medicine, Volume 30, Issue 8, April 2026.ABSTRACT CRISPR‐Cas9 systems revolutionized gene editing, but inherent drawbacks, namely DNA double‐strand breaks (DSBs) and the difficulty of achieving precise repairs (due to low HDR efficiency), led researchers to invent new, more accurate gene editing tools.
Melike Aliciaslan +3 more
wiley +1 more source
A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells [PDF]
, 2016 Recessive mutations in the MPV17 gene cause mitochondrial DNA depletion syndrome, a fatal infantile genetic liver disease in humans. Loss of function in mice leads to glomerulosclerosis and sensineural deafness accompanied with mitochondrial DNA ...
A Rokka +37 more
core +1 more source
Advanced Science, Volume 13, Issue 18, 27 March 2026.Donor‐derived tdTomato+ mature hepatocytes were FACS‐isolated and transplanted into Fah−/− host mice. During regeneration, these cells convert into proliferative, unipotent Afp+ rHeps. Their plasticity is governed by a PPARγ/AFP‐dependent metabolic switch, segregating into pro‐proliferative Afplow and pro‐survival Afphigh subpopulations.
Ting Fang +12 more
wiley +1 more source
Harnessing a high cargo-capacity transposon for genetic applications in vertebrates.
PLoS Genetics, 2006 Viruses and transposons are efficient tools for permanently delivering foreign DNA into vertebrate genomes but exhibit diminished activity when cargo exceeds 8 kilobases (kb).
Darius Balciunas +10 more
doaj +1 more source
Microbial Biotechnology, Volume 19, Issue 3, March 2026.The bZIP63.5 transcription factor, activated by Alternaria alternata stress, directly upregulates zinc‐finger transcription factors (Zn2CyS6 and C2H2 types), which in turn enhance the expression of downstream detoxification and defence‐related genes, collectively improving the biocontrol efficacy of Trichoderma harzianum.
Yongfeng Yang +6 more
wiley +1 more source