Mito Foundation PhD Top-Up Scholarship

Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity

CQE Lee, B Kerouanton, S Chothani, S Zhang, Y Chen, CK Mantri, DH Hock, R Lim, R Nadkarni, VT Huynh, D Lim, WL Chew, FL Zhong, DA Stroud, S Schafer, V Tergaonkar, AL St John, OJL Rackham, L Ho

2021-12-01

Mito-SEPs are small open reading frame-encoded peptides that localize to the mitochondria to regulate metabolism. Motivated by an ..

Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I

LE Formosa, B Reljic, AJ Sharpe, DH Hock, L Muellner-Wong, DA Stroud, MT Ryan

2021-04-27

Mitochondrial disease is a debilitating condition with a diverse genetic etiology. Here, we report that TMEM126A, a protein that i..

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism

TD Jackson, DH Hock, KM Fujihara, CS Palmer, AE Frazier, YC Low, Y Kang, CS Ang, NJ Clemons, DR Thorburn, DA Stroud, D Stojanovski

2021-03-01

Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that contributes to protein biogenesis as a subunit of the TIM22 complex..

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

AE Frazier, AG Compton, Y Kishita, DH Hock, AME Welch, SSC Amarasekera, R Rius, LE Formosa, A Imai-Okazaki, D Francis, M Wang, NJ Lake, S Tregoning, JS Jabbari, A Lucattini, KR Nitta, A Ohtake, K Murayama, DJ Amor, G McGillivray

2021-01-15

Background: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosi..

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

G Helman, AG Compton, DH Hock, M Walkiewicz, GR Brett, L Pais, TY Tan, R De Paoli-Iseppi, MB Clark, J Christodoulou, SM White, DR Thorburn, DA Stroud, Z Stark, C Simons

2021-01-01

The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..

Blackout in the powerhouse: Clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome

DH Hock, DRL Robinson, DA Stroud

2020-11-05

Mitochondria produce the bulk of the energy used by almost all eukaryotic cells through oxidative phosphorylation (OXPHOS) which o..

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

NJ Van Bergen, SM Ahmed, F Collins, M Cowley, A Vetro, RC Dale, DH Hock, C De Caestecker, M Minal, S Massey, H Gladys, T Pisano, S Glover, J Gusman, DA Stroud, M Dinger, R Guerrini, IG MacAra, J Christodoulou

2020-01-01

The exocyst, an octameric protein complex, is an essential component of the membrane transport machinery required for tethering an..