A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Mechanisms of Mitochondrial Iron-Sulfur Protein Biogenesis

(2020) Roland Lill et al.   Annual Review of Biochemistry

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

(2019) Tova Hershkovitz et al.   JOURNAL OF HUMAN GENETICS

Iron–sulfur cluster biosynthesis and trafficking – impact on human disease conditions

(2018) C. Wachnowsky et al.   Metallomics

Genomic diagnostics within a medically underserved population: efficacy and implications

(2017) Kevin A Strauss et al.   GENETICS IN MEDICINE

Structure of human Fe–S assembly subcomplex reveals unexpected cysteine desulfurase architecture and acyl-ACP–ISD11 interactions

(2017) Seth A. Cory et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure and functional dynamics of the mitochondrial Fe/S cluster synthesis complex

(2017) Michal T. Boniecki et al.   Nature Communications

Biogenesis of cytosolic and nuclear iron–sulfur proteins and their role in genome stability

(2015) Viktoria Désirée Paul et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitochondrial iron–sulfur protein biogenesis and human disease

(2014) Oliver Stehling et al.   BIOCHIMIE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

(2013) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

(2013) Sze Chern Lim et al.   HUMAN MOLECULAR GENETICS

Exome sequencing identifiesNFS1deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

(2013) Sali M. K. Farhan et al.   Molecular Genetics & Genomic Medicine

Human granulosa luteal cell oxidative phosphorylation function is not affected by age or ovarian response

(2012) Yoel Shufaro et al.   FERTILITY AND STERILITY

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

(2011) Ann Saada et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

(2009) Avraham Zeharia et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

In vivo iron-sulfur cluster formation

(2008) E. C. Raulfs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA