Results 81 to 90 of about 8,719 (208)

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Testing for Porphobilinogen in Urine [PDF]

Clinical Chemistry, 2002
Increased porphobilinogen (PBG) in urine is pathognomonic of an attack or “crisis” of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
openaire   +2 more sources

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source

Two Subunits of the Rpd3 Histone Deacetylase Complex of Cochliobolus heterostrophus Are Essential for Nitrosative Stress Response and Virulence, and Interact With Stress‐Response Regulators ChHog1 and ChCrz1

Molecular Plant Pathology, Volume 26, Issue 8, August 2025.
ChPho23 and ChSds3, two components of the Rpd3 histone deacetylase complex associated with ChHog1, regulate the transcription factor ChCrz1 and modulate the nitrosative stress response and virulence in Cochliobolus heterostrophus. ABSTRACT Southern corn leaf blight (SCLB), caused by Cochliobolus heterostrophus, is a destructive disease in maize‐growing
Jinyu Fan, Jun Hu, Dan Li, Yuanyuan Tian, Mengjiao Jia, Tianye Liang, Hongyu Pan, Xianghui Zhang   +7 more
wiley   +1 more source

Trends in resource utilization for new‐onset psychosis hospitalizations at children's hospitals

Journal of Hospital Medicine, Volume 20, Issue 7, Page 710-726, July 2025.
Abstract Background Children with new‐onset psychosis often require hospitalization for medical evaluation. Objectives The goal of this study was to assess variations in the management of children with new‐onset psychosis and characterize trends in resource utilization.
Ankita Gupta, Matt Hall, Benjamin Masserano, Averi Wilson, Katherine Johnson, Clifford Chen, Lasya Challa, Harita Katragadda, Vineeta Mittal   +8 more
wiley   +1 more source

δ-Aminolevulinic acid cytotoxic effects on human hepatocarcinoma cell lines [PDF]

, 2002
BACKGROUND: Acute Intermittent Porphyria is a genetic disorder of heme metabolism, characterized by increased levels of porphyrin precursors, delta-aminolevulinic acid (ALA) and porphobilinogen (PBG).
Adriana De Siervi, Elba S Vazquez, Carolina Rezaval, María V Rossetti, Alcira M del Batlle, LA Wetterberg, C AM del Batlle, A De Siervi, JA Stein, HL Bonkowsky, EA Wider de Xifra, F Lithner, L Hardell, R Kauppinen, J Onuki, DP Aden, BB Knowles, GJ Darlington, B Bressac, JK Wilson, P Chomczynski, T Douki, A Batlle, S Helson, R Washbrook, F Wagener, K Nath, V Russel, MC Raff, SW Lowe, L Meijer, M Garrett   +31 more
core   +4 more sources

Rat Porphobilinogen Deaminase Gene: A Pseudogene-Free Internal Standard for Laser-Assisted Cell Picking

BioTechniques, 1999
Analysis of gene expression and its transcriptional regulation requires a reliable access to target mRNA. However, mRNA extractions from homogenized tissue are limited because only average data are obtained, and cell-specific expression may not be ...
L. Fink, U. Stahl, L. Ermert, W. Kummer, W. Seeger, R.M. Bohle   +5 more
doaj   +1 more source

A family with acute intermittent porphyria [PDF]

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

The 5' untranslated region of the I factor, a long interspersed nuclear element-like retrotransposon of Drosophila melanogaster, contains an internal promoter and sequences that regulate expression [PDF]

, 1993
The I-R system of hybrid dysgenesis in Drosophila melanogaster is controlled by a long interspersed nuclear element-like retroposon, the I factor.
BUCHETON, A, FINNEGAN, D J, Finnegan, David, MCLEAN, C   +3 more
core   +1 more source

Hepatocyte Transplantation Ameliorates the Metabolic Abnormality in a Mouse Model of Acute Intermittent Porphyria

Cell Transplantation, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant disorder characterized by insufficient porphobilinogen deaminase (PBGD) activity. When hepatic heme synthesis is induced, porphobilinogen (PBG) and 5-aminolevulinic acid (ALA) accumulate, which ...
Zhaohui Yin, Staffan Wahlin M.D., Ph.D., Ewa C. S. Ellis, Pauline Harper, Bo-Göran Ericzon, Greg Nowak   +5 more
doaj   +1 more source