A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

(2020) Elena J. Tucker et al.   HUMAN GENETICS

Mitochondrial diseases in adults

(2020) C. La Morgia et al.   JOURNAL OF INTERNAL MEDICINE

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

(2020) Jing Tan et al.   EBioMedicine

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

(2020) Sarah L. Stenton et al.   EBioMedicine

Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

(2020) Auke B. C. Otten et al.   Frontiers in Cell and Developmental Biology

Mitochondrial HMG-Box Containing Proteins: From Biochemical Properties to the Roles in Human Diseases

(2020) Veronika Vozáriková et al.   Biomolecules

The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: a perspective encompassing genomics, transcriptomics and proteomics

(2019) Sarah Louise Stenton et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE

(2019) Apostolos Dimitromanolakis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

(2019) Valentina Del Dotto et al.   JOURNAL OF CLINICAL INVESTIGATION

SnapShot: Mitochondrial Nucleoid

(2018) Nina A. Bonekamp et al.   CELL

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

(2018) Sarah Louise Stenton et al.   Essays in Biochemistry

Mitochondrial DNA Transcription and Its Regulation: An Evolutionary Perspective

(2018) Gilad Barshad et al.   TRENDS IN GENETICS

The mtDNA replication-related genes TFAM and POLG are associated with leprosy in Han Chinese from Southwest China

(2017) Dong Wang et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Histological Analyses of Acute Alcoholic Liver Injury in Zebrafish

(2017) Jillian L. Ellis et al.   Jove-Journal of Visualized Experiments

SOAPnuke: a MapReduce acceleration-supported software for integrated quality control and preprocessing of high-throughput sequencing data

(2017) Yuxin Chen et al.   GigaScience

The genetics and pathology of mitochondrial disease

(2016) Charlotte L Alston et al.   JOURNAL OF PATHOLOGY

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

(2016) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

Primary Ovarian Insufficiency

(2016) Joop Laven   SEMINARS IN REPRODUCTIVE MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Autoimmune primary ovarian insufficiency

(2014) C.A. Silva et al.   AUTOIMMUNITY REVIEWS

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

Distinct structural features of TFAM drive mitochondrial DNA packaging versus transcriptional activation

(2014) Huu B. Ngo et al.   Nature Communications

In Vivo Modeling of the Morbid Human Genome using Danio rerio

(2013) Adrienne R. Niederriter et al.   Jove-Journal of Visualized Experiments

Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number

(2012) Christopher T. Campbell et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Mitochondria: In Sickness and in Health

(2012) Jodi Nunnari et al.   CELL

Mitochondrial disorders as windows into an ancient organelle

(2012) Scott B. Vafai et al.   NATURE

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease

(2012) Lena F. Burbulla et al.   Jove-Journal of Visualized Experiments

Human metabolic individuality in biomedical and pharmaceutical research

(2011) Karsten Suhre et al.   NATURE

Human mitochondrial transcription factor A induces a U-turn structure in the light strand promoter

(2011) Anna Rubio-Cosials et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The mitochondrial transcription and packaging factor Tfam imposes a U-turn on mitochondrial DNA

(2011) Huu B Ngo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

(2011) C. Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL