Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman, +14

Science Translational Medicine

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Sarah E. Calvo, Elena J. Tucker, Alison G. Compton, +15

Nature Genetics

Identifies MutationsHuman ComplexSequencingNext-generation SequencingGenetics +9

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

Elena J. Tucker, Steven G. Hershman, Caroline Köhrer, +14

Cell Metabolism

Mendelian DisorderMitochondrial BiogenesisMitochondrial FunctionGenetic DisorderMtfmt Underlie +5

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Radha Desai, Ann E. Frazier, Romina Durigon, +33

Brain

EngineeringMitochondrial DysfunctionGeneticsGenetic EpidemiologyMolecular Genetics +20

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

Sze Chern Lim, Martin Friemel, Justine E. Marum, +13

Human Molecular Genetics

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Helen Swalwell, Denise M. Kirby, Emma L. Blakely, +11

European Journal of Human Genetics

Mitochondrial MyopathyRespiratory Chain ComplexMendelian DisorderMitochondrial BiogenesisMitochondrial Function +8

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Elena J. Tucker, Bas F.J. Wanschers, Radek Szklarczyk, +15

PLoS Genetics

Protein FunctionComplex Iii DeficiencyMitochondrial FunctionUqcc1-interacting ProteinComplex Iii +13

A Novel Mutation in the <i>Nfkb2</i> Gene Generates an NF-κB2 “Super Repressor”

Elena J. Tucker, Kristy O’Donnell, Martina Fuchsberger, +10

The Journal of Immunology

Mutations in the Gene Encoding C8orf38 Block Complex I Assembly by Inhibiting Production of the Mitochondria-Encoded Subunit ND1

Matthew McKenzie, Elena J. Tucker, Alison G. Compton, +4

Journal of Molecular Biology

Mitochondrial BiogenesisMitochondrial FunctionNatural SciencesGeneticsProtein Biosynthesis +6

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R. Smith, David A. Stroud, +15

The American Journal of Human Genetics

Founder MutationLebanese IndividualsMendelian DisorderGenetic DisorderGenetics +7