Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

(2020) Fenja Markus et al.   Molecular Genetics & Genomic Medicine

Molybdenum cofactor biology, evolution and deficiency

(2020) Simon J. Mayr et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Analysis of the Cellular Roles of MOCS3 Identifies a MOCS3-Independent Localization of NFS1 at the Tips of the Centrosome

(2019) Yannika Neukranz et al.   BIOCHEMISTRY

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency

(2019) Daniel Bender et al.   HUMAN MOLECULAR GENETICS

The clinical and molecular characteristics of MOCS2 deficiency

(2019) Pinar Arican et al.   PEDIATRIC NEUROLOGY

S-Sulfocysteine Induces Seizure-Like Behaviors in Zebrafish

(2019) Jennifer Plate et al.   Frontiers in Pharmacology

Second report of RING finger protein 113A ( RNF113A) involvement in a Mendelian disorder

(2019) Marine Tessarech et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Iron Sulfur and Molybdenum Cofactor Enzymes Regulate the Drosophila Life Cycle by Controlling Cell Metabolism

(2018) Zvonimir Marelja et al.   Frontiers in Physiology

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

(2016) Maha S. Zaki et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Molybdenum cofactor deficiency

(2016) Paldeep S. Atwal et al.   MOLECULAR GENETICS AND METABOLISM

Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency

(2015) Konstantin Mechler et al.   GENETICS IN MEDICINE

Sulfite disrupts brain mitochondrial energy homeostasis and induces mitochondrial permeability transition pore opening via thiol group modification

(2014) Mateus Grings et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Predicting the functional consequences of cancer-associated amino acid substitutions

(2013) Hashem A. Shihab et al.   BIOINFORMATICS

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Dual Role of the Molybdenum Cofactor Biosynthesis Protein MOCS3 in tRNA Thiolation and Molybdenum Cofactor Biosynthesis in Humans

(2012) Mita Mullick Chowdhury et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH