Arber C - Search Results

1

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.

Gustavsson EK, Sethi S, Gao Y, Brenton JW, García-Ruiz S, Zhang D, Garza R, Reynolds RH, Evans JR, Chen Z, Grant-Peters M, Macpherson H, Montgomery K, Dore R, Wernick AI, Arber C, Wray S, Gandhi S, Esselborn J, Blauwendraat C, Douse CH, Adami A, Atacho DAM, Kouli A, Quaegebeur A, Barker RA, Englund E, Platt F, Jakobsson J, Wood NW, Houlden H, Saini H, Bento CF, Hardy J, Ryten M. Gustavsson EK, et al. Among authors: arber c. Sci Adv. 2024 Jun 28;10(26):eadk1296. doi: 10.1126/sciadv.adk1296. Epub 2024 Jun 26. Sci Adv. 2024. PMID: 38924406 Free PMC article.

2

Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.

Arber CE, Li A, Houlden H, Wray S. Arber CE, et al. Neuropathol Appl Neurobiol. 2016 Apr;42(3):220-41. doi: 10.1111/nan.12242. Epub 2015 Jun 2. Neuropathol Appl Neurobiol. 2016. PMID: 25870938 Free PMC article. Review.

3

Using human induced pluripotent stem cells to model cerebellar disease: hope and hype.

Wiethoff S, Arber C, Li A, Wray S, Houlden H, Patani R. Wiethoff S, et al. Among authors: arber c. J Neurogenet. 2015;29(2-3):95-102. doi: 10.3109/01677063.2015.1053478. Epub 2015 Aug 27. J Neurogenet. 2015. PMID: 25985846 Free PMC article. Review.

4

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.

Sposito T, Preza E, Mahoney CJ, Setó-Salvia N, Ryan NS, Morris HR, Arber C, Devine MJ, Houlden H, Warner TT, Bushell TJ, Zagnoni M, Kunath T, Livesey FJ, Fox NC, Rossor MN, Hardy J, Wray S. Sposito T, et al. Among authors: arber c. Hum Mol Genet. 2015 Sep 15;24(18):5260-9. doi: 10.1093/hmg/ddv246. Epub 2015 Jul 1. Hum Mol Genet. 2015. PMID: 26136155 Free PMC article.

5

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons.

Ludtmann MHR, Arber C, Bartolome F, de Vicente M, Preza E, Carro E, Houlden H, Gandhi S, Wray S, Abramov AY. Ludtmann MHR, et al. Among authors: arber c. J Biol Chem. 2017 May 26;292(21):8907-8917. doi: 10.1074/jbc.M116.762898. Epub 2017 Mar 30. J Biol Chem. 2017. PMID: 28360103 Free PMC article.

6

Stem cell models of Alzheimer's disease: progress and challenges.

Arber C, Lovejoy C, Wray S. Arber C, et al. Alzheimers Res Ther. 2017 Jun 13;9(1):42. doi: 10.1186/s13195-017-0268-4. Alzheimers Res Ther. 2017. PMID: 28610595 Free PMC article. Review.

7

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.

Arber C, Angelova PR, Wiethoff S, Tsuchiya Y, Mazzacuva F, Preza E, Bhatia KP, Mills K, Gout I, Abramov AY, Hardy J, Duce JA, Houlden H, Wray S. Arber C, et al. PLoS One. 2017 Sep 1;12(9):e0184104. doi: 10.1371/journal.pone.0184104. eCollection 2017. PLoS One. 2017. PMID: 28863176 Free PMC article.

8

Analysis of macroautophagy related proteins in G2019S LRRK2 Parkinson's disease brains with Lewy body pathology.

Mamais A, Manzoni C, Nazish I, Arber C, Sonustun B, Wray S, Warner TT, Cookson MR, Lewis PA, Bandopadhyay R. Mamais A, et al. Among authors: arber c. Brain Res. 2018 Dec 15;1701:75-84. doi: 10.1016/j.brainres.2018.07.023. Epub 2018 Jul 25. Brain Res. 2018. PMID: 30055128 Free PMC article.

9

Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Arber C, Toombs J, Lovejoy C, Ryan NS, Paterson RW, Willumsen N, Gkanatsiou E, Portelius E, Blennow K, Heslegrave A, Schott JM, Hardy J, Lashley T, Fox NC, Zetterberg H, Wray S. Arber C, et al. Mol Psychiatry. 2020 Nov;25(11):2919-2931. doi: 10.1038/s41380-019-0410-8. Epub 2019 Apr 12. Mol Psychiatry. 2020. PMID: 30980041 Free PMC article.

10

Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout.

Arber C, Villegas-Llerena C, Toombs J, Pocock JM, Ryan NS, Fox NC, Zetterberg H, Hardy J, Wray S. Arber C, et al. Brain Commun. 2019;1(1):fcz024. doi: 10.1093/braincomms/fcz024. Epub 2019 Oct 14. Brain Commun. 2019. PMID: 32395715 Free PMC article.

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