Hock DH - Search Results

1

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: hock dh. Brain. 2024 Nov 12:awae371. doi: 10.1093/brain/awae371. Online ahead of print. Brain. 2024. PMID: 39531736

2

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV.

Hock DH, Reljic B, Ang CS, Muellner-Wong L, Mountford HS, Compton AG, Ryan MT, Thorburn DR, Stroud DA. Hock DH, et al. Mol Cell Proteomics. 2020 Jul;19(7):1145-1160. doi: 10.1074/mcp.RA120.002076. Epub 2020 Apr 21. Mol Cell Proteomics. 2020. PMID: 32317297 Free PMC article.

3

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

Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J. Van Bergen NJ, et al. Among authors: hock dh. J Exp Med. 2020 Oct 5;217(10):e20192040. doi: 10.1084/jem.20192040. J Exp Med. 2020. PMID: 32639540 Free PMC article.

4

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

Hock DH, Robinson DRL, Stroud DA. Hock DH, et al. Biochem J. 2020 Nov 13;477(21):4085-4132. doi: 10.1042/BCJ20190767. Biochem J. 2020. PMID: 33151299 Free PMC article. Review.

5

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

Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, Tan TY, De Paoli-Iseppi R, Clark MB, Christodoulou J, White SM, Thorburn DR, Stroud DA, Stark Z, Simons C. Helman G, et al. Among authors: hock dh. Hum Mutat. 2021 Jan;42(1):19-24. doi: 10.1002/humu.24135. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33169436 Free PMC article.

6

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

Jackson TD, Hock DH, Fujihara KM, Palmer CS, Frazier AE, Low YC, Kang Y, Ang CS, Clemons NJ, Thorburn DR, Stroud DA, Stojanovski D. Jackson TD, et al. Among authors: hock dh. Mol Biol Cell. 2021 Mar 15;32(6):475-491. doi: 10.1091/mbc.E20-06-0390. Epub 2021 Jan 21. Mol Biol Cell. 2021. PMID: 33476211 Free PMC article.

7

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

Formosa LE, Reljic B, Sharpe AJ, Hock DH, Muellner-Wong L, Stroud DA, Ryan MT. Formosa LE, et al. Among authors: hock dh. Proc Natl Acad Sci U S A. 2021 Apr 27;118(17):e2019665118. doi: 10.1073/pnas.2019665118. Proc Natl Acad Sci U S A. 2021. PMID: 33879611 Free PMC article.

8

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Van Bergen NJ, Hock DH, Spencer L, Massey S, Stait T, Stark Z, Lunke S, Roesley A, Peters H, Lee JY, Le Fevre A, Heath O, Mignone C, Yang JY, Ryan MM, D'Arcy C, Nash M, Smith S, Caruana NJ, Thorburn DR, Stroud DA, White SM, Christodoulou J, Brown NJ. Van Bergen NJ, et al. Among authors: hock dh. Int J Mol Sci. 2022 Jan 17;23(2):986. doi: 10.3390/ijms23020986. Int J Mol Sci. 2022. PMID: 35055180 Free PMC article.

9

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.

Kumar R, Corbett MA, Smith NJC, Hock DH, Kikhtyak Z, Semcesen LN, Morimoto A, Lee S, Stroud DA, Gleeson JG, Haan EA, Gecz J. Kumar R, et al. Among authors: hock dh. NPJ Genom Med. 2022 Jan 28;7(1):9. doi: 10.1038/s41525-021-00277-7. NPJ Genom Med. 2022. PMID: 35091571 Free PMC article.

10

Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory Chain.

Robinson DRL, Hock DH, Muellner-Wong L, Kugapreethan R, Reljic B, Surgenor EE, Rodrigues CHM, Caruana NJ, Stroud DA. Robinson DRL, et al. Among authors: hock dh. Front Cell Dev Biol. 2022 Mar 1;10:786268. doi: 10.3389/fcell.2022.786268. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35300415 Free PMC article.

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