scholarly journals Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

2016 ◽  
Vol 37 (7) ◽  
pp. 679-694 ◽  
Author(s):  
Enea Sancho-Vaello ◽  
Clara Marco-Marín ◽  
Nadine Gougeard ◽  
Leonor Fernández-Murga ◽  
Véronique Rüfenacht ◽  
...  
Keyword(s):  
Glutamate Synthase ◽  
Mutational Spectrum ◽  
Enzyme Functionality

scholarly journals Glutamate Synthase from Escherichia coli

1972 ◽  
Vol 247 (22) ◽  
pp. 7407-7419
Author(s):  
Richard E. Miller ◽  
Earl R. Stadtman
Keyword(s):  
Escherichia Coli ◽  
Glutamate Synthase

Expanding the mutational spectrum for branchiooculofacial syndrome: a novel nonsense variant

2021 ◽  
Vol 132 ◽  
pp. S269
Author(s):  
Zoe Powis ◽  
Hannah Hayes ◽  
J. Austin Hamm ◽  
Abbey Putnam ◽  
Raveen Basran
Keyword(s):  
Mutational Spectrum

GLUTAMATE SYNTHASE FROM AZOSPIRILLUM BRASILENSE: ROLE OF FLAVINS AND IRON SULFUR CENTERS

1991 ◽  
pp. 749-754
Author(s):  
Maria A. Vanoni ◽  
Giuliana Zanetti ◽  
Bruno Curti ◽  
Dale E. Edmondson
Keyword(s):  
Azospirillum Brasilense ◽  
Glutamate Synthase ◽  
Iron Sulfur

Disruption of genes for the enhanced biosynthesis of α-ketoglutarate in Corynebacterium glutamicum

2012 ◽  
Vol 58 (3) ◽  
pp. 278-286 ◽  
Author(s):  
Jae-Hyung Jo ◽  
Hye-Young Seol ◽  
Yun-Bom Lee ◽  
Min-Hong Kim ◽  
Hyung-Hwan Hyun ◽  
...  
Keyword(s):  
Corynebacterium Glutamicum ◽  
Biosynthetic Pathway ◽  
Isocitrate Lyase ◽  
Glutamate Synthase ◽  
Flask Culture ◽  
Control Strain ◽  
Enhanced Production ◽  
Key Enzyme ◽  
Microbial Strains ◽  
Glyoxylate Pathway

The development of microbial strains for the enhanced production of α-ketoglutarate (α-KG) was investigated using a strain of Corynebacterium glutamicum that overproduces of l-glutamate, by disrupting three genes involved in the α-KG biosynthetic pathway. The pathways competing with the biosynthesis of α-KG were blocked by knocking out aceA (encoding isocitrate lyase, ICL), gdh (encoding glutamate dehydrogenase, l-gluDH), and gltB (encoding glutamate synthase or glutamate-2-oxoglutarate aminotransferase, GOGAT). The strain with aceA, gltB, and gdh disrupted showed reduced ICL activity and no GOGAT and l-gluDH activities, resulting in up to 16-fold more α-KG production than the control strain in flask culture. These results suggest that l-gluDH is the key enzyme in the conversion of α-KG to l-glutamate; therefore, prevention of this step could promote α-KG accumulation. The inactivation of ICL leads the carbon flow to α-KG by blocking the glyoxylate pathway. However, the disruption of gltB did not affect the biosynthesis of α-KG. Our results can be applied in the industrial production of α-KG by using C. glutamicum as producer.

Expanding mutational spectrum of HRAS by a patient with Schimmelpenning–Feuerstein–Mims syndrome

2021 ◽  
Author(s):  
Qi Luo ◽  
Qin Zhang ◽  
Jinwen Shen ◽  
Wenbin Guan ◽  
Ming Li ◽  
...  
Keyword(s):  
Mutational Spectrum

scholarly journals Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders

2021 ◽  
Author(s):  
Yi Zhang ◽  
Tao Wang ◽  
Yan Wang ◽  
Kun Xia ◽  
Jinchen Li ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Genetic Data ◽  
Chinese Patients ◽  
The Novel ◽  
Mutational Spectrum ◽  
Functional Variants ◽  
Public Data ◽  
Chromosomal Genes

AbstractNeurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with NDDs and validated 1271 potential functional variants, including 108 de novo variants (DNVs) in 78 autosomal genes and seven inherited hemizygous variants in six X chromosomal genes. Notably, 36 of these 78 genes are the first to be reported in Chinese patients with NDDs. By integrating our genetic data with public data, we prioritized 212 NDD candidate genes with FDR < 0.1, including 17 novel genes. The novel candidate genes interacted or were co-expressed with known candidate genes, forming a functional network involved in known pathways. We highlighted MSL2, which carried two de novo protein-truncating variants (p.L192Vfs*3 and p.S486Ifs*11) and was frequently connected with known candidate genes. This study provides the mutational spectrum of NDDs in China and prioritizes 212 NDD candidate genes for further functional validation and genetic counseling.

scholarly journals The co‐mutational spectrum determines the therapeutic response in murine FGFR2 fusion ‐ driven cholangiocarcinoma

Hepatology ◽  
2021 ◽  
Author(s):  
Gajanan Kendre ◽  
Silke Marhenke ◽  
Georgina Lorz ◽  
Diana Becker ◽  
Tanja Reineke‐Plaaß ◽  
...  
Keyword(s):  
Therapeutic Response ◽  
Mutational Spectrum

Expression of a ferredoxin-dependent glutamate synthase gene in mesophyll and vascular cells and functions of the enzyme in ammonium assimilation in Nicotiana tabacum (L.)

Planta ◽  
2005 ◽  
Vol 222 (4) ◽  
pp. 667-677 ◽  
Author(s):  
Magali Feraud ◽  
Céline Masclaux-Daubresse ◽  
Sylvie Ferrario-Méry ◽  
Karine Pageau ◽  
Maud Lelandais ◽  
...  
Keyword(s):  
Nicotiana Tabacum ◽  
Glutamate Synthase ◽  
Ammonium Assimilation ◽  
Vascular Cells ◽  
Nicotiana Tabacum L

scholarly journals The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

2009 ◽  
Vol 30 (10) ◽  
pp. E921-E935 ◽  
Author(s):  
Erich Roessler ◽  
Kenia B. El-Jaick ◽  
Christèle Dubourg ◽  
Jorge I. Vélez ◽  
Benjamin D. Solomon ◽  
...  
Keyword(s):  
Loss Of Function ◽  
Structural Alterations ◽  
Mutational Spectrum
Sign in / Sign up

Export Citation Format

Share Document