Results 61 to 70 of about 2,195 (151)

Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP) [PDF]

Molecular Medicine, 1999
Acute intermittent porphyria (AIP), an autosomal dominant inborn error, results from the half-normal activity of the heme biosynthetic enzyme hydroxymethylbilane synthase (EC 4.3.1.8; HMB-synthase). This disease is characterized by acute, life-threatening neurologic attacks that are precipitated by various drugs, hormones, and other factors.
C, Solis, I, Lopez-Echaniz, D, Sefarty-Graneda, K H, Astrin, R J, Desnick   +4 more
openaire   +2 more sources

Modification of hydroxymethylbilane synthase (porphobilinogen deaminase) by pyridoxal 5′-phosphate. Demonstration of an essential lysine residue [PDF]

Biochemical Journal, 1984
When hydroxymethylbilane synthase (porphobilinogen deaminase) from Euglena gracilis is incubated with pyridoxal 5′-phosphate at pH 7.0 and 0 degree C, it rapidly loses part of its activity. The proportion of activity that remains decreases as the concentration of the modifier increases up to approx.
G J, Hart, F J, Leeper, A R, Battersby
openaire   +2 more sources

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy–Associated Cardiomyopathy

Acta Physiologica, Volume 241, Issue 12, December 2025.
ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Brice‐Emmanuel Guennec, Yeranuhi Hovhannisyan, Gaëlle Revet, Sila Polat, Medhi Hassani, Nathalie Mougenot, Inès Barthelemy, Stephane Blot, Caroline Cieniewski‐Bernard, Arnaud Ferry, Ekaterini Kordeli, Zhenlin Li, Onnik Agbulut   +12 more
wiley   +1 more source

Validation of Suitable Reference Genes for Gene Expression Studies on Yak Testis Development

Animals, 2020
Testis has an important function in male reproduction. Its development is regulated by a large number of genes. The real-time reserve transcriptase-quantitative polymerase chain reaction (RT-qPCR) is a useful tool to evaluate the gene expression levels ...
Xuelan Zhou, Xiaoyun Wu, Min Chu, Chunnian Liang, Xuezhi Ding, Jie Pei, Lin Xiong, Pengjia Bao, Xian Guo, Ping Yan   +9 more
doaj   +1 more source

Screening of Reference Genes for RT-qPCR in Chicken Adipose Tissue and Adipocytes

Frontiers in Physiology, 2021
Reverse transcription quantitative real-time PCR is the most commonly used method to detect gene expression levels. In experiments, it is often necessary to correct and standardize the expression level of target genes with reference genes.
Wei Na, Wei Na, Wei Na, Wei Na, Yuxiang Wang, Yuxiang Wang, Yuxiang Wang, Pengfei Gong, Pengfei Gong, Pengfei Gong, Xinyang Zhang, Xinyang Zhang, Xinyang Zhang, Ke Zhang, Ke Zhang, Ke Zhang, Hui Zhang, Hui Zhang, Hui Zhang, Ning Wang, Ning Wang, Ning Wang, Hui Li, Hui Li, Hui Li   +24 more
doaj   +1 more source

Acute intermittent porphyria: a disease with low penetrance and high heterogeneity

Frontiers in Genetics
Acute intermittent porphyria (AIP) is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS), a key enzyme in the heme biosynthesis pathway.
Jia-Jia Lei, Shuang Li, Bai-Xue Dong, Jing Yang, Yi Ren   +4 more
doaj   +1 more source

Human papillomavirus deoxyribonucleic acid may not be detected in non-genital benign papillomatous skin lesions by polymerase chain reaction

Indian Journal of Dermatology, 2014
Background: Papillomatosis is a known histopathologic pattern usually seen in human papillomavirus (HPV) infection and verruca vulgaris is the typical example.
Kamyab Hesari Kambiz, Davoodi Kaveh, Damavandi Maede, Ayatollahi Hossein, Aghazadeh Nessa, Rahbar Ziba, Ghanadan Alireza   +6 more
doaj   +1 more source

Mitochondrial Dysfunction and Defects in Mitochondrial Adaptation to Exercise Training in the Muscle of Patients With COPD: Disease Versus Disuse

Acta Physiologica, Volume 241, Issue 8, August 2025.
ABSTRACT Aim Chronic obstructive pulmonary disease (COPD) is frequently associated with skeletal muscle dysfunction, having a considerable impact on exercise tolerance and patient prognosis. Mitochondria play a role in skeletal muscle weakness and exercise intolerance in COPD, but the majority of studies on mitochondrial function are biased by the fact
Aldjia Abdellaoui, Farés Gouzi, Cécile Notarnicola, Annick Bourret, Amandine Suc, Dalila Laoudj‐Chenivesse, Nelly Héraud, Jacques Mercier, Christian Préfaut, Maurice Hayot, Pascal Pomiès   +10 more
wiley   +1 more source

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

JIMD Reports, 2023
Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme‐precursors and
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero   +9 more
doaj   +1 more source

Purification, characterization, crystallisation and X‐ray analysis of selenomethionine‐labelled hydroxymethylbilane synthase from Escherichia coli [PDF]

European Journal of Biochemistry, 1993
Hydroxymethylbilane synthase (HMBS) catalyses the conversion of porphobilinogen into hydroxymethylbilane, a linear tetrapyrrolic intermediate in the biosynthesis of haems, chlorophylls, vitamin B12 and related macrocyles. In the course of an investigation of the crystal structure of this enzyme, we intended to follow a new strategy to obtain the X‐ray ...
Hadener, Alfons, Matzinger, Peter K., Malashkevich, Vladimir N., Louie, Gordon V., Wood, Stephen P., Oliver, Philip, Alefounder, Peter R., Pitt, Andrew R., Abell, Chris, Battersby, Alan R.   +9 more
openaire   +5 more sources