Results 181 to 190 of about 65,531 (344)

The disease‐linked R336C mutation in cystathionine β‐synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity

The FEBS Journal, EarlyView.
Cystathionine β‐synthase (CBS) is an essential enzyme involved in cysteine metabolism. The mutation R336C, associated with severe homocystinuria and of high incidence in Qatar, reduces its activity. Our research shows that this mutation does not destabilize the enzyme fold but subtly alters the tautomeric equilibrium of the PLP cofactor within the ...
Carolina Conter, Reyes Núñez‐Franco, Duaa Walid Al‐Sadeq, Carmen Fernández‐Rodríguez, Naroa Goikoetxea‐Usandizaga, Gheyath K. Nasrallah, Michail Nomikos, Maria Luz Martinez‐Chantar, Alessandra Astegno, Gonzalo Jiménez‐Osés, Luis Alfonso Martínez‐Cruz   +10 more
wiley   +1 more source

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Journal of Inherited Metabolic Disease, 2018
C. Coughlin, Michael A. Swanson, E. Spector, Naomi J. L. Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, M. Wempe, C.D.M. van Karnebeek, Sidney M. Gospe, Verena G. Aziz, Becky P. Tsai, Hanlin Gao, Peter L. Nagy, K. Hyland, S. J. V. van Dooren, G. Salomons, J. V. Van Hove   +16 more
semanticscholar   +1 more source

The CRISPR‐Cas9 knockout DDC SH‐SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross‐sectional structural and functional analysis

The FEBS Journal, EarlyView.
Here, we generated a DDC‐KO cellular model for studying aromatic amino acid decarboxylase (AADC) deficiency. This model was created using CRISPR‐Cas9 in the SH‐SY5Y neuroblastoma cell line and was validated through the absence of the dopamine product and an altered l‐dopa metabolite profile.
Cristian Andres Carmona‐Carmona, Giovanni Bisello, Rossella Franchini, Gianluigi Lunardi, Roberta Galavotti, Massimiliano Perduca, Rui P. Ribeiro, Benny Danilo Belviso, Alejandro Giorgetti, Rocco Caliandro, Patricia M.‐J. Lievens, Mariarita Bertoldi   +11 more
wiley   +1 more source

RELATIVE EFFECTS OF CASEIN AND TRYPTOPHANE ON THE HEALTH AND XANTHURENIC ACID EXCRETION OF PYRIDOXINE-DEFICIENT MICE

, 1945
E. C. Miller, C.A. Baumann
openalex   +1 more source

Doxylamine succinate–pyridoxine hydrochloride (Diclegis) for the management of nausea and vomiting in pregnancy: an overview

International Journal of Women's Health, 2014
Nina Nuangchamnong, Jennifer Niebyl Department of Obstetrics and Gynecology, University of Iowa Hospitals and Clinics, Iowa, IA, USA Abstract: Nausea and vomiting in pregnancy (NVP) is common and often undertreated, in part due to fears of adverse ...
Nuangchamnong N, Niebyl J
doaj  

EFFECT OF PYRIDOXINE DEFICIENCY ON NUCLEIC ACID METABOLISM IN THE RAT [PDF]

, 1965
AC TRAKATELLIS, AE Axelrod
openalex   +1 more source

Plant genetic transformation: achievements, current status and future prospects

Plant Biotechnology Journal, EarlyView.
Summary Regeneration represents a fundamental biological process wherein an organism's tissues or organs repair and replace themselves following damage or environmental stress. In plant systems, injured tree branches can regenerate adventitious buds and develop new crowns through propagation techniques like cuttings and canopy pruning, while transgenic
Peilin Wang, Huan Si, Chenhui Li, Zhongping Xu, Huiming Guo, Shuangxia Jin, Hongmei Cheng   +6 more
wiley   +1 more source

Enhancement of vitamin B6 production driven by omics analysis combined with fermentation optimization

Microbial Cell Factories
Background Microbial engineering aims to enhance the ability of bacteria to produce valuable products, including vitamin B6 for various applications. Numerous microorganisms naturally produce vitamin B6, yet the metabolic pathways involved are rigorously
Zhizhong Tian, Linxia Liu, Lijuan Wu, Zixuan Yang, Yahui Zhang, Liping Du, Dawei Zhang   +6 more
doaj   +1 more source

Mother knows worst? Fungal infection enhances corn flavonoid of wogonin to inhibit Conogethes punctiferalis larval growth

Plant Biotechnology Journal, EarlyView.
Schematic representation of Trichoderma asperellum infection affects the flavonoid content in corn and influences the gut microbiota and juvenile hormone pathway of Conogethes punctiferalis larvae leading to growth inhibition. Summary Pathogen infection in host plants can alter the attraction and adaptability of herbivorous insects.
Qian Li, Jiayu Li, Kaining Wu, Yue Tong, Aihuan Zhang, Yanli Du   +5 more
wiley   +1 more source

THE FUNCTION OF PYRIDOXINE: CONVERSION OF MEMBERS OF THE VITAMIN B6 GROUP INTO CODECARBOXYLASE

, 1945
W. D. Bellamy, W. W. Umbreit, I. C. Gunsalus   +2 more
openalex   +1 more source