Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in
CNL7
MFSD8
clinical genetics
mRNA
neurodevelopmental disorders
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
17 01 2023
17 01 2023
Historique:
received:
09
12
2022
revised:
08
01
2023
accepted:
16
01
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) gene have been characterized. Biallelic variants in
Identifiants
pubmed: 36833170
pii: genes14020245
doi: 10.3390/genes14020245
pmc: PMC9956376
pii:
doi:
Substances chimiques
RNA, Messenger
0
DNA, Complementary
0
MFSD8 protein, human
0
Membrane Transport Proteins
0
SPATA5 protein, human
0
ATPases Associated with Diverse Cellular Activities
EC 3.6.4.-
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Références
Neurogenetics. 2005 Sep;6(3):107-26
pubmed: 15965709
PLoS One. 2014 Oct 15;9(10):e109576
pubmed: 25333361
Biochim Biophys Acta. 2012 Oct;1822(10):1617-28
pubmed: 22668694
Int J Mol Sci. 2022 Feb 18;23(4):
pubmed: 35216386
Neurogenetics. 2009 Oct;10(4):307-11
pubmed: 19277732
Turk J Pediatr. 2004 Jan-Mar;46(1):1-10
pubmed: 15074367
Ophthalmic Genet. 2019 Apr;40(2):141-145
pubmed: 31006324
Eur J Paediatr Neurol. 2015 Jan;19(1):78-86
pubmed: 25439737
Brain. 2009 Mar;132(Pt 3):810-9
pubmed: 19201763
Neurol Sci. 2021 Mar;42(3):1103-1111
pubmed: 33486620
Front Neurol. 2022 Aug 02;13:907228
pubmed: 36034301
Neurogenetics. 2009 Feb;10(1):73-7
pubmed: 18850119
Pediatr Neurol. 2014 Jan;50(1):85-95
pubmed: 24120650
Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12
pubmed: 25270050
JIMD Rep. 2019 Sep 03;50(1):20-30
pubmed: 31741823
Clin Neurol Neurosurg. 2022 Sep;220:107375
pubmed: 35917699
Front Genet. 2022 Jan 26;13:807515
pubmed: 35154277
Ophthalmology. 2015 Jan;122(1):170-9
pubmed: 25227500
PLoS One. 2018 Dec 13;13(12):e0207958
pubmed: 30543658
Hum Mutat. 2012 Jan;33(1):42-63
pubmed: 21990111
N Engl J Med. 2019 Oct 24;381(17):1644-1652
pubmed: 31597037
Am J Hum Genet. 2007 Jul;81(1):136-46
pubmed: 17564970
Int J Mol Sci. 2022 Apr 13;23(8):
pubmed: 35457110
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2256-61
pubmed: 26026924
Acta Neuropathol. 2019 Jan;137(1):71-88
pubmed: 30382371
Hum Mutat. 2009 Mar;30(3):E530-40
pubmed: 19177532
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
BMC Med Genet. 2018 Aug 25;19(1):151
pubmed: 30144815
Front Genet. 2019 Apr 25;10:370
pubmed: 31105743
Ophthalmic Genet. 2022 Jul 8;:1-5
pubmed: 35801630
Biochim Biophys Acta. 2013 Nov;1832(11):1795-800
pubmed: 22959893
Hum Mol Genet. 2010 Nov 15;19(22):4497-514
pubmed: 20826447
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2262-6
pubmed: 25989315
J Med Case Rep. 2018 Sep 25;12(1):281
pubmed: 30249282
Nat Protoc. 2006;1(2):581-5
pubmed: 17406285
J Epilepsy Res. 2021 Jun 30;11(1):22-31
pubmed: 34395220
Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):2906-2914
pubmed: 28586915
Methods Mol Biol. 2012;867:49-63
pubmed: 22454054