A novel IRF2BPL truncating variant is associated with endolysosomal storage-Reference-Cited by-同舟云学术

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A novel IRF2BPL truncating variant is associated with endolysosomal storage

Published:2019-10-03 Issue:1 Volume:47 Page:711-714
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Ginevrino Monia,Battini Roberta,Nuovo Sara,Simonati Alessandro,Micalizzi Alessia,Contaldo Ilaria,Serpieri Valentina,Valente Enza Maria^ORCID

Funder

Fondazione Pierfranco e Luisa Mariani

FP7 Ideas: European Research Council

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-019-05109-7.pdf

Reference12 articles.

1. Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martinez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ et al (2018) IRF2BPL is associated with neurological phenotypes. Am J Hum Genet 103(2):245–260

2. Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martinez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A (2019) De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genet Med 21(4):1008–1014. https://doi.org/10.1038/s41436-018-0143-0

3. Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L, Nava A, Danieli GA (2000) Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. Biochem Biophys Res Commun 278(3):766–774. https://doi.org/10.1006/bbrc.2000.3883

4. Anderson GW, Goebel HH, Simonati A (2013) Human pathology in NCL. Biochim Biophys Acta 11:1807–1826. https://doi.org/10.1016/j.bbadis.2012.11.014

5. Beck-Wodl S, Harzer K, Sturm M, Buchert R, Riess O, Mennel HD, Latta E, Pagenstecher A, Keber U (2018) Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease—a new type of neuronal ceroid lipofuscinosis (CLN15)? Acta Neuropathol Commun 6(1):145. https://doi.org/10.1186/s40478-018-0646-6

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1. IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA;Movement Disorders;2024-09-03

2. Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature;European Child & Adolescent Psychiatry;2024-07-20

3. Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants—mechanisms and therapeutic avenues;Frontiers in Neuroscience;2024-06-06

4. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation;Annals of Clinical and Translational Neurology;2024-04-22

5. Genetics and Pathogenesis of Dystonia;Annual Review of Pathology: Mechanisms of Disease;2024-01-24

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