Patrick F Finn
Overview
Explore the profile of Patrick F Finn including associated specialties, affiliations and a list of published articles.
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16
Citations
463
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Recent Articles
1.
Zhou J, Liang S, Yin L, Frassetto A, Graham A, White R, et al.
Mol Ther
. 2025 Jan;
33(3):1197-1212.
PMID: 39799396
Ornithine transcarbamylase deficiency (OTCD) is the most common urea-cycle disorder, characterized by hyperammonemia and accompanied by a high unmet patient need. mRNA therapies have been shown to be efficacious in...
2.
Touramanidou L, Gurung S, Cozmescu C, Perocheau D, Moulding D, Finn P, et al.
Cells
. 2024 Dec;
13(23).
PMID: 39682727
Recently approved adeno-associated viral (AAV) vectors for liver monogenic diseases haemophilia A and B are exemplifying the success of liver-directed viral gene therapy. In parallel, additional gene therapy strategies are...
3.
Perocheau D, Gurung S, Touramanidou L, Duff C, Sharma G, Sebire N, et al.
F1000Res
. 2024 Apr;
12:1580.
PMID: 38618017
Background: In academic research and the pharmaceutical industry, cell lines and animal models are considered as gold standards in modelling diseases and assessing therapeutic efficacy. However, both models have intrinsic...
4.
Balakrishnan B, Yan X, McCue M, Bellagamba O, Guo A, Winkler F, et al.
Mol Ther Methods Clin Dev
. 2024 Feb;
32(1):101191.
PMID: 38352271
Despite the implementation of lifesaving newborn screening programs and a galactose-restricted diet, many patients with classic galactosemia develop long-term debilitating neurological deficits and primary ovarian insufficiency. Previously, we showed that...
5.
Gurung S, Timmermand O, Perocheau D, Gil-Martinez A, Minnion M, Touramanidou L, et al.
Sci Transl Med
. 2024 Jan;
16(729):eadh1334.
PMID: 38198573
The urea cycle enzyme argininosuccinate lyase (ASL) enables the clearance of neurotoxic ammonia and the biosynthesis of arginine. Patients with ASL deficiency present with argininosuccinic aciduria, an inherited metabolic disease...
6.
Gurung S, Karamched S, Perocheau D, Seunarine K, Baldwin T, Alrashidi H, et al.
J Inherit Metab Dis
. 2023 Dec;
47(6):1213-1227.
PMID: 38044746
Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with...
7.
Ter Huurne M, Parker B, Liu N, Qian E, Vivien C, Karavendzas K, et al.
Am J Hum Genet
. 2023 Aug;
110(9):1600-1605.
PMID: 37607539
Recent studies in non-human model systems have shown therapeutic potential of nucleoside-modified messenger RNA (modRNA) treatments for lysosomal storage diseases. Here, we assessed the efficacy of a modRNA treatment to...
8.
Cao J, Markel A, Hanahoe E, Ketova T, Mihai C, Zalinger Z, et al.
Amino Acids
. 2023 Mar;
55(5):695-708.
PMID: 36944899
Glucose-6-phosphatase-α (G6Pase-α) catalyzes the hydrolysis of glucose-6-phosphate to glucose and functions as a key regulator in maintaining blood glucose homeostasis. Deficiency in G6Pase-α causes glycogen storage disease 1a (GSD1a), an...
9.
Cao J, Choi M, Guadagnin E, Soty M, Silva M, Verzieux V, et al.
Nat Commun
. 2021 May;
12(1):3090.
PMID: 34035281
Glycogen Storage Disease 1a (GSD1a) is a rare, inherited metabolic disorder caused by deficiency of glucose 6-phosphatase (G6Pase-α). G6Pase-α is critical for maintaining interprandial euglycemia. GSD1a patients exhibit life-threatening hypoglycemia...
10.
Wei G, Cao J, Huang P, An P, Badlani D, Vaid K, et al.
J Hepatol
. 2020 Dec;
74(6):1416-1428.
PMID: 33340584
Background & Aims: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare lethal autosomal recessive liver disorder caused by loss-of-function variations of the ABCB4 gene, encoding a phosphatidylcholine transporter...