Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

(2019) Moritz Hebebrand et al.   Orphanet Journal of Rare Diseases

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

(2019) Margot A. Cousin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

(2019) Christian Staufner et al.   GENETICS IN MEDICINE

Neuronal autophagy and intercellular regulation of homeostasis in the brain

(2018) Aditi Kulkarni et al.   CURRENT OPINION IN NEUROBIOLOGY

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

(2018) Dominic Lenz et al.   GENETICS IN MEDICINE

Aminoacyl-tRNA synthetase deficiencies in search of common themes

(2018) Sabine A. Fuchs et al.   GENETICS IN MEDICINE

Loss of Leucyl-tRNA synthetase b leads to ILFS1-like symptoms in zebrafish

(2018) Zekun Wang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Control of leucine-dependent mTORC1 pathway through chemical intervention of leucyl-tRNA synthetase and RagD interaction

(2017) Jong Hyun Kim et al.   Nature Communications

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

(2016) Jos C. Jansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

(2016) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene

(2016) Małgorzata J. M. Nowaczyk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

(2015) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS

(2015) Jillian P. Casey et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

(2015) Christian Staufner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

LARS mutations in non-Irish travelers: An under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress

(2015) Areeg El-Gharbawy et al.   MITOCHONDRION

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

(2013) Eline van Meel et al.   BMC Medical Genetics

Aminoacyl-tRNA synthetases in medicine and disease

(2013) Peng Yao et al.   EMBO Molecular Medicine

Leucyl-tRNA Synthetase Is an Intracellular Leucine Sensor for the mTORC1-Signaling Pathway

(2012) Jung Min Han et al.   CELL

Identification of a mutation in LARS as a novel cause of infantile hepatopathy

(2012) Jillian P. Casey et al.   MOLECULAR GENETICS AND METABOLISM

Endoplasmic reticulum stress in liver disease

(2010) Harmeet Malhi et al.   JOURNAL OF HEPATOLOGY

New functions of aminoacyl-tRNA synthetases beyond translation

(2010) Min Guo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Regulation Mechanisms and Signaling Pathways of Autophagy

(2009) Congcong He et al.   Annual Review of Genetics

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics