Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
R Meyer-Schuman, A Antonellis - Human molecular genetics, 2017 - academic.oup.com
Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate
tRNA molecules, which is the essential first step of protein translation. Interestingly …
tRNA molecules, which is the essential first step of protein translation. Interestingly …
[HTML][HTML] Neurodegenerative Charcot–Marie–Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases
Aminoacyl-tRNA synthetases (aaRSs) are essential enzymes that catalyze the first reaction
in protein biosynthesis, namely the charging of transfer RNAs (tRNAs) with their cognate …
in protein biosynthesis, namely the charging of transfer RNAs (tRNAs) with their cognate …
[HTML][HTML] Chimeric design of pyrrolysyl-tRNA synthetase/tRNA pairs and canonical synthetase/tRNA pairs for genetic code expansion
W Ding, H Zhao, Y Chen, B Zhang, Y Yang… - Nature …, 2020 - nature.com
An orthogonal aminoacyl-tRNA synthetase/tRNA pair is a crucial prerequisite for site-specific
incorporation of unnatural amino acids. Due to its high codon suppression efficiency and full …
incorporation of unnatural amino acids. Due to its high codon suppression efficiency and full …
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS
Through dominant mutations, aminoacyl-tRNA synthetases constitute the largest protein
family linked to Charcot-Marie-Tooth disease (CMT). An example is CMT subtype 2N …
family linked to Charcot-Marie-Tooth disease (CMT). An example is CMT subtype 2N …
[HTML][HTML] A naturally occurring mini-alanyl-tRNA synthetase
TR Antika, DJ Chrestella, YK Tseng, YH Yeh… - Communications …, 2023 - nature.com
Alanyl-tRNA synthetase (AlaRS) retains a conserved prototype structure throughout its
biology, consisting of catalytic, tRNA-recognition, editing, and C-Ala domains. The catalytic …
biology, consisting of catalytic, tRNA-recognition, editing, and C-Ala domains. The catalytic …
Human diseases linked to cytoplasmic aminoacyl-tRNA synthetases
As an essential component of the translation machinery, aminoacyl-tRNA synthetases
(aaRSs) are indispensable for cell viability. In complex multicellular organisms, this …
(aaRSs) are indispensable for cell viability. In complex multicellular organisms, this …
[HTML][HTML] Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
S Bervoets, N Wei, ML Erfurth… - Nature …, 2019 - nature.com
Abstract Charcot-Marie-Tooth disease (CMT) is a length-dependent peripheral neuropathy.
The aminoacyl-tRNA synthetases constitute the largest protein family implicated in CMT …
The aminoacyl-tRNA synthetases constitute the largest protein family implicated in CMT …
Distinct ways of G: U recognition by conserved tRNA binding motifs
Throughout three domains of life, alanyl-tRNA synthetases (AlaRSs) recognize a G3: U70
base pair in the acceptor stem of tRNAAla as the major identity determinant of tRNAAla. The …
base pair in the acceptor stem of tRNAAla as the major identity determinant of tRNAAla. The …
Aminoacyl‐tRNA synthetases in Charcot–Marie–Tooth disease: A gain or a loss?
Abstract Charcot‐Marie‐Tooth disease (CMT) is one of the most common inherited
neurodegenerative disorders with an increasing number of CMT‐associated variants …
neurodegenerative disorders with an increasing number of CMT‐associated variants …
[HTML][HTML] Relaxed sequence constraints favor mutational freedom in idiosyncratic metazoan mitochondrial tRNAs
B Kuhle, J Chihade, P Schimmel - Nature Communications, 2020 - nature.com
Metazoan complexity and life-style depend on the bioenergetic potential of mitochondria.
However, higher aerobic activity and genetic drift impose strong mutation pressure and risk …
However, higher aerobic activity and genetic drift impose strong mutation pressure and risk …