Results 31 to 40 of about 5,389 (175)

Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran—An ongoing clinical conundrum

JIMD Reports, 2023
A 47‐year‐old woman with acute intermittent porphyria (AIP) has had recurring symptoms after achieving biochemical normalization of her urinary 5‐aminolevulinic acid (ALA), porphobilinogen (PBG), and total porphyrins with givosiran.
Christopher D. Ma, Denise Faust, Herbert L. Bonkovsky   +2 more
doaj   +1 more source

Plastid Engineering for Photosynthesis‐Driven Synthesis of Hyaluronic Acid in Tobacco

Plant Biotechnology Journal, EarlyView.
ABSTRACT Hyaluronic acid (HA) is a glycosaminoglycan composed of alternating units of N‐acetylglucosamine and glucuronic acid. High moisture retention, viscoelasticity and biocompatibility are unique features that make HA polymers attractive compounds for medical applications and aesthetic purposes.
Amanda Lopes, Omar Sandoval‐Ibáñez, Stéphanie Arrivault, David Rolo, F. Vanessa Loiacono, Alexander Erban, Daniel Karcher, Stephan Obst, Stephanie Ruf, Joachim Kopka, Ralph Bock   +10 more
wiley   +1 more source

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

Frontiers in Genetics, 2022
Background and aims: Porphyrias constitute a group of rare genetic diseases due to various, mostly autosomal dominant mutations, causing enzymatic deficiency in heme biosynthesis.
Edwige Collaud, Luis Wittwer, Luis Wittwer, Anna-Elisabeth Minder, Jean-Marie Annoni, Elisabeth I. Minder, Joelle N. Chabwine, Joelle N. Chabwine   +7 more
doaj   +1 more source

Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report

Anais da Academia Brasileira de Ciências, 2013
Acute intermittent porphyria is the most common acute porphyria caused by a decrease in hepatic porphobilinogen deaminase activity, resulting in an accumulation of delta-aminolevulinic acid and porphobilinogen.
ANNA R.R. DOS SANTOS, RAFAELA R. DE ALBUQUERQUE, MARIA J.R. DORIQUI, GRACIOMAR C. COSTA, ANA PAULA S.A. DOS SANTOS   +4 more
doaj   +1 more source

Therapeutic Perspectives of SIRT6 Regulation: Computational Analysis of Activation and Inhibition by Bioactive Molecules

Journal of Molecular Recognition, Volume 39, Issue 1, January 2026.
ABSTRACT Sirtuin 6 (SIRT6) is an enzyme belonging to the class of nicotinamide adenine dinucleotide (NAD+) dependent histone deacetylases. It has been of interest due to its multivariate biological role and association with aging‐related diseases and metabolic dysfunctions.
Érika Geicianny de Carvalho Matias, Katyanna Sales Bezerra, Washington Sales Clemente Junior, Jonas Ivan Nobre Oliveira, Douglas Soares Galvão, Umberto Laino Fulco   +5 more
wiley   +1 more source

A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2016
Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000.
Smilu Mohanlal, Radha Gulati Ghildiyal, Alpana Kondekar, Poonam Wade, Richa Sinha   +4 more
doaj   +1 more source

Quantitative Analyses of Programmed Cell Death (PCD) Relevant Indicators in Postharvest Vegetable

Future Postharvest and Food, Volume 2, Issue 4, Page 444-457, December 2025.
The PCD relevant indicators of postharvest vegetable. ABSTRACT The measurement of factors related to postharvest programmed cell death (PCD) in vegetables is crucial for understanding the physiological and metabolic pathways involved in vegetable ripening, aging, and stress responses. PCD is an actively regulated process orchestrated by the interaction
Qianqian Shi, Jiahui Chen, Shifeng Cao, Yingying Wei, Xingfeng Shao, Feng Xu   +5 more
wiley   +1 more source

Porphobilinogen Synthase: A Challenge for the Chemist?

CHIMIA, 2001
The initial steps in the biosynthesis of the tetrapyrrolic dyes, called the 'pigments of life', are highly convergent. The formation of porphobilinogen, the pyrrolic precursor of the tetrapyrrolic skeleton, uses ?-aminolevulinate as the starting
Frédéric Stauffer, Eleonora Zizzari, Carole Soldermann-Pissot, Jean-Philippe Faurite, Reinhard Neier   +4 more
doaj  

Nanosensors in Leukemia Management: Pioneering Real‐Time Biomarker Detection for Precision Oncology

Nano Select, Volume 6, Issue 12, December 2025.
This review highlights pioneering nanosensors designed for real‐time leukemia biomarker detection, integrating advanced nanomaterials such as liposomes, polymeric nanoparticles and quantum dots. It examines electrochemical, optical and magnetic detection mechanisms, the applications across AML, ALL, CML, and CLL subtypes, and clinical translation ...
Hamed Soleimani Samarkhazan, Mohammad Navid Khaksari, Amirhossein Mirzazadeh, Mohammad Siavashi, Niloofar Pilehvari, Mohammad Hossein Mohammadi   +5 more
wiley   +1 more source

Beyond Methane Oxidation: The Protein Landscape of ANME‐2a Reveals an Integrated System for Diazotrophy and Membrane Fortification

Environmental Microbiology Reports, Volume 17, Issue 6, December 2025.
A protein interaction network of ANME‐2a uncovers a modular blueprint where core methane oxidation is energetically coupled to nitrogen fixation and membrane lipid biosynthesis. This integrated system explains the archaeon's metabolic autonomy and resilience in its extreme deep‐sea niche.
Samuel de Souza e Silva, Natanael Borges de Avila, Alisson William da Silva, Lucas Ramos Fernandes da Silva, Matheus Ribeiro Prado, Murilo Alves Beppler, Anderson Rodrigues dos Santos   +6 more
wiley   +1 more source