David A Parfitt
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Explore the profile of David A Parfitt including associated specialties, affiliations and a list of published articles.
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20
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949
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Recent Articles
1.
Buijsen R, van der Graaf L, Kuijper E, Pepers B, Daoutsali E, Weel L, et al.
Biomedicines
. 2024 Sep;
12(9).
PMID: 39335447
Antisense technology demonstrates significant potential for addressing inherited brain diseases, with over a dozen products already available and numerous others in the development pipeline. The versatility of differentiating induced pluripotent...
2.
Daoutsali E, Pepers B, Stamatakis S, van der Graaf L, Terwindt G, Parfitt D, et al.
Front Aging Neurosci
. 2023 Feb;
14:1048584.
PMID: 36733499
Introduction: ADutch-type cerebral amyloid angiopathy (D-CAA) is a hereditary brain disorder caused by a point mutation in the amyloid precursor protein (APP) gene. The mutation is located within the amyloid...
3.
Kenkhuis B, van Eekeren M, Parfitt D, Ariyurek Y, Banerjee P, Priller J, et al.
Stem Cell Reports
. 2022 May;
17(6):1351-1365.
PMID: 35523178
Iron accumulation in microglia has been observed in Alzheimer's disease and other neurodegenerative disorders and is thought to contribute to disease progression through various mechanisms, including neuroinflammation. To study this...
4.
Khan M, Arno G, Fakin A, Parfitt D, Dhooge P, Albert S, et al.
Mol Ther Nucleic Acids
. 2020 Jul;
21:412-427.
PMID: 32653833
Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein. Over the past few...
5.
Aguila M, Bellingham J, Athanasiou D, Bevilacqua D, Duran Y, Maswood R, et al.
Hum Mol Genet
. 2020 Mar;
29(8):1310-1318.
PMID: 32196553
Rhodopsin misfolding caused by the P23H mutation is a major cause of autosomal dominant retinitis pigmentosa (adRP). To date, there are no effective treatments for adRP. The BiP co-chaperone and...
6.
Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt D, Schulkens I, et al.
Mol Ther Nucleic Acids
. 2018 Aug;
12:730-740.
PMID: 30114557
Leber congenital amaurosis type 10 (LCA10) is a severe inherited retinal dystrophy associated with mutations in CEP290. The deep intronic c.2991+1655A>G mutation in CEP290 is the most common mutation in...
7.
Zarouchlioti C, Parfitt D, Li W, Gittings L, Cheetham M
Philos Trans R Soc Lond B Biol Sci
. 2017 Dec;
373(1738).
PMID: 29203718
Maintenance of protein homeostasis is vitally important in post-mitotic cells, particularly neurons. Neurodegenerative diseases such as polyglutamine expansion disorders-like Huntington's disease or spinocerebellar ataxia (SCA), Alzheimer's disease, fronto-temporal dementia (FTD),...
8.
Schwarz N, Lane A, Jovanovic K, Parfitt D, Aguila M, Thompson C, et al.
Hum Mol Genet
. 2017 Sep;
26(17):3451.
PMID: 28854704
No abstract available.
9.
Agrawal S, Burgoyne T, Eblimit A, Bellingham J, Parfitt D, Lane A, et al.
Hum Mol Genet
. 2017 May;
26(14):2667-2677.
PMID: 28475715
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with...
10.
Schwarz N, Lane A, Jovanovic K, Parfitt D, Aguila M, Thompson C, et al.
Hum Mol Genet
. 2017 Apr;
26(13):2480-2492.
PMID: 28444310
Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric...