Cargando…

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 (CMT2N), caused by individual mutations spread out in AlaRS, including three in the aminoacylation domain, thereby suggesting a role...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Litao, Wei, Na, Kuhle, Bernhard, Blocquel, David, Novick, Scott, Matuszek, Zaneta, Zhou, Huihao, He, Weiwei, Zhang, Jingjing, Weber, Thomas, Horvath, Rita, Latour, Philippe, Pan, Tao, Schimmel, Paul, Griffin, Patrick R., Yang, Xiang-Lei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2021
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8020758/ https://www.ncbi.nlm.nih.gov/pubmed/33753480 http://dx.doi.org/10.1073/pnas.2012898118

Ejemplares similares

The uniqueness of AlaRS and its human disease connections
por: Zhang, Han, et al.
Publicado: (2020)

Paradox of mistranslation of serine for alanine caused by AlaRS recognition dilemma
por: Guo, Min, et al.
Publicado: (2009)

Gain of C-Ala enables AlaRS to target the L-shaped tRNA(Ala)
por: Antika, Titi Rindi, et al.
Publicado: (2022)

Role of D-aminoacyl-tRNA deacylase beyond chiral proofreading as a cellular defense against glycine mischarging by AlaRS
por: Pawar, Komal Ishwar, et al.
Publicado: (2017)

Structural basis for shape-selective recognition and aminoacylation of a D-armless human mitochondrial tRNA
por: Kuhle, Bernhard, et al.
Publicado: (2022)

Conformational sampling of CMT-2D associated GlyRS mutations
por: Childers, Matthew Carter, et al.
Publicado: (2022)

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
por: He, Weiwei, et al.
Publicado: (2015)

Novel technique and simple approach for supra-alar region and supra-alar crease correction by supra-alar cinching
por: Selvaraj, Loganathan
Publicado: (2016)

Expression of NRP-1 and NRP-2 in Endometrial Cancer
por: Oplawski, Marcin, et al.
Publicado: (2019)

Editorial: Noncanonical functions of Aminoacyl-tRNA synthetases
por: Sun, Litao, et al.
Publicado: (2023)

Alar Flare Preservation Using the Sandwich Technique as an Adjunct to Alar Base Reduction
por: Abdelkader, Rasha, et al.
Publicado: (2021)

A Novel Approach for Full-Thickness Defect of the Nasal Alar Rim: Primary Closure of the Defect and Reduction of the Contralateral Normal Ala for Symmetry
por: Choe, Yun Seon, et al.
Publicado: (2015)

OBSTETRICS (C.M.T.)
Publicado: (1970)

ATP-Directed Capture of Bioactive Herbal-Based Medicine on Human tRNA Synthetase
por: Zhou, Huihao, et al.
Publicado: (2012)

Inferiorly Based Alar Groove Flap for Correction of Alar Base Malposition and Nasal Stenosis
por: Patel, Niki, et al.
Publicado: (2022)

An Alternative Alar Cinch Suture
por: Rauso, Raffaele, et al.
Publicado: (2010)

Isolated cleft of alar rim
por: Kannan, R., et al.
Publicado: (2012)

Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema
por: Michelini, Sandro, et al.
Publicado: (2020)

Side Chain Independent Recognition of Aminoacyl Adenylates by the Hint1 Transcription Suppressor
por: Wang, Jing, et al.
Publicado: (2012)

Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients
por: Kitani-Morii, Fukiko, et al.
Publicado: (2020)

Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice
por: Bai, Yunhong, et al.
Publicado: (2022)

NRP1 and MMP9 are dual targets of RNA‐binding protein QKI5 to alter VEGF‐R/ NRP1 signalling in trophoblasts in preeclampsia
por: Yang, Xingyu, et al.
Publicado: (2021)

Skirt Flap for Nasal Alar Reconstruction
por: Ueda, Koichi, et al.
Publicado: (2014)

Recurrent Chondroid Syringoma of the Alar Rim
por: Yun, Young Mook, et al.
Publicado: (2016)

NRP1 and synapse formation
por: Ango, Fabrice
Publicado: (2016)

Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
por: Bervoets, Sven, et al.
Publicado: (2019)

Aminoacyl‐tRNA synthetases in Charcot–Marie–Tooth disease: A gain or a loss?
por: Zhang, Han, et al.
Publicado: (2020)

Aminoacyl-tRNA synthetases in human health and disease
por: Turvey, Alexandra K., et al.
Publicado: (2022)

Altered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels
por: Sleigh, James N., et al.
Publicado: (2020)

Outcome Study after Nasal Alar/Peri-alar Subunit Reconstruction: Comparing Paramedian Forehead Flap to Nasolabial Flap
por: Genova, Rafaella, et al.
Publicado: (2019)

Lower lateral crural turnover flap combined with alar batten graft for the long-term result of the treatment of alar convexities
por: Merlin, Philippine, et al.
Publicado: (2021)

Nasal alar rim redraping method to prevent alar retraction in rhinoplasty for Asian men: A retrospective case series
por: Choi, Jun Ho, et al.
Publicado: (2021)

Surgical strategy of lumbopelvic instrumentation in the treatment of lumbosacral tuberculosis: S2‐alar‐iliac screws vs iliac screws
por: Yu, Long, et al.
Publicado: (2022)

CMT3 and SUVH4/KYP silence the exonic Evelknievel retroelement to allow for reconstitution of CMT1 mRNA
por: Yadav, Narendra Singh, et al.
Publicado: (2018)

Duplication of the Alar Ligaments: A Case Report
por: Rizvi, Asad, et al.
Publicado: (2018)

The Navicular Graft for Reconstructing Deep Alar Defects
por: Robinson, Caitlin, et al.
Publicado: (2021)

A Novel Technique for Nasal Alar Reconstruction
por: Nadjmi, Nasser, et al.
Publicado: (2022)

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
por: Leal, Alejandro, et al.
Publicado: (2009)

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models
por: Leal, Alejandro, et al.
Publicado: (2009)

NRP1 and NRP2 cooperate to regulate gangliogenesis, axon guidance and target innervation in the sympathetic nervous system
por: Maden, Charlotte H., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_sj9q5lv5govao23m9ebo153eh9