Golder ZJ - Search Results

1

Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.

Cai N, Gomez-Duran A, Yonova-Doing E, Kundu K, Burgess AI, Golder ZJ, Calabrese C, Bonder MJ, Camacho M, Lawson RA, Li L, Williams-Gray CH; ICICLE-PD Study Group; Di Angelantonio E, Roberts DJ, Watkins NA, Ouwehand WH, Butterworth AS, Stewart ID, Pietzner M, Wareham NJ, Langenberg C, Danesh J, Walter K, Rothwell PM, Howson JMM, Stegle O, Chinnery PF, Soranzo N. Cai N, et al. Among authors: golder zj. Nat Med. 2021 Sep;27(9):1564-1575. doi: 10.1038/s41591-021-01441-3. Epub 2021 Aug 23. Nat Med. 2021. PMID: 34426706 Free article.

2

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

Kullar PJ, Gomez-Duran A, Gammage PA, Garone C, Minczuk M, Golder Z, Wilson J, Montoya J, Häkli S, Kärppä M, Horvath R, Majamaa K, Chinnery PF. Kullar PJ, et al. Brain. 2018 Jan 1;141(1):55-62. doi: 10.1093/brain/awx295. Brain. 2018. PMID: 29182774 Free PMC article.

3

Frequency and signature of somatic variants in 1461 human brain exomes.

Wei W, Keogh MJ, Aryaman J, Golder Z, Kullar PJ, Wilson I, Talbot K, Turner MR, McKenzie CA, Troakes C, Attems J, Smith C, Sarraj SA, Morris CM, Ansorge O, Jones NS, Ironside JW, Chinnery PF. Wei W, et al. Genet Med. 2019 Apr;21(4):904-912. doi: 10.1038/s41436-018-0274-3. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214067 Free PMC article.

4

Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues.

Bicci I, Calabrese C, Golder ZJ, Gomez-Duran A, Chinnery PF. Bicci I, et al. Among authors: golder zj. Nucleic Acids Res. 2021 Dec 16;49(22):12757-12768. doi: 10.1093/nar/gkab1179. Nucleic Acids Res. 2021. PMID: 34850165 Free PMC article.

5

Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.

Nie Y, Murley A, Golder Z, Rowe JB, Allinson K, Chinnery PF. Nie Y, et al. Acta Neuropathol. 2022 Jun;143(6):687-695. doi: 10.1007/s00401-022-02423-6. Epub 2022 Apr 30. Acta Neuropathol. 2022. PMID: 35488929 Free PMC article.

6

High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.

Murley AG, Nie Y, Golder Z, Keogh MJ, Smith C, Ironside JW, Chinnery PF. Murley AG, et al. Neurol Genet. 2023 Jan 19;9(1):e200054. doi: 10.1212/NXG.0000000000200054. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 36686280 Free PMC article.

7

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.

Norgett EE, Golder ZJ, Lorente-Cánovas B, Ingham N, Steel KP, Karet Frankl FE. Norgett EE, et al. Among authors: golder zj. Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):13775-80. doi: 10.1073/pnas.1204257109. Epub 2012 Aug 7. Proc Natl Acad Sci U S A. 2012. PMID: 22872862 Free PMC article.

8

Physical and functional links between anion exchanger-1 and sodium pump.

Su Y, Al-Lamki RS, Blake-Palmer KG, Best A, Golder ZJ, Zhou A, Karet Frankl FE. Su Y, et al. Among authors: golder zj. J Am Soc Nephrol. 2015 Feb;26(2):400-9. doi: 10.1681/ASN.2013101063. Epub 2014 Jul 10. J Am Soc Nephrol. 2015. PMID: 25012180 Free PMC article.

9

Extra-renal locations of the a4 subunit of H(+)ATPase.

Golder ZJ, Karet Frankl FE. Golder ZJ, et al. BMC Cell Biol. 2016 Jul 2;17(1):27. doi: 10.1186/s12860-016-0106-8. BMC Cell Biol. 2016. PMID: 27368196 Free PMC article.

10

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

Lorente-Cánovas B, Ingham N, Norgett EE, Golder ZJ, Karet Frankl FE, Steel KP. Lorente-Cánovas B, et al. Among authors: golder zj. Dis Model Mech. 2013 Mar;6(2):434-42. doi: 10.1242/dmm.010645. Epub 2012 Oct 12. Dis Model Mech. 2013. PMID: 23065636 Free PMC article.

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