References
- Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol. 2003;62:1–13.
- Drack AV, Miller JN, Pearce DA. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis. J Child Neurol. 2013;28:1112–1116.
- Dyken PR. Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. Am J Med Genet. 1988;5:69–84.
- Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005;6:107–126.
- Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009;1793:697–709.
- Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988;10:80–83.
- TIBDC. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell. 1995;82:949–957.
- Persaud-Sawin DA, VanDongen A, Boustany RM. Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. Hum Mol Genet. 2002;11:2129–2142.
- Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012;33:42–63.
- Kyttala A, Ihrke G, Vesa J, et al. Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. MBoC. 2004;15:1313–1323.
- Ezaki J, Takeda-Ezaki M, Koike M, et al. Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. J Neurochem. 2003;87:1296–1308.
- Chan CH, Mitchison HM, Pearce DA. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. Hum Mol Genet. 2008;1;17:3332–3339.
- Miller JN, Chan CH, Pearce DA. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013;22:2723–2734.
- Moroziewicz DN, Ju W, Zhong R, et al. N-terminal segments are the functional domains of CLN3-encoded battenin for protein interactions. Beijing da Xue Xue Bao Yi Xue Ban = J Peking Univ Health Sci. 2006;38:38–40.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424.
- Tan J, Ong CK, Lim WK, et al. Genomic landscapes of breast fibroepithelial tumors. Nat Genet. 2015;47:1341–1345.
- Phillips SN, Benedict JW, Weimer JM, et al. CLN3, the protein associated with batten disease: structure, function and localization. J Neurosci Res. 2005;79:573–583.
- Luiro K, Yliannala K, Ahtiainen L, et al. Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum Mol Genet. 2004;13:3017–3027.
- Mao Q, Xia H, Davidson BL. Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. FEBS Lett. 2003;555:351–357.
- Jarvela I, Sainio M, Rantamaki T, et al. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet. 1998;7:85–90.
- Luiro K, Kopra O, Lehtovirta M, et al. CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. Hum Mol Genet. 2001;10:2123–2131.
- Wang F, Wang H, Tuan HF, et al. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014;133:331–345.
- Janes RW, Munroe PB, Mitchison HM, et al. A model for Batten disease protein CLN3: functional implications from homology and mutations. FEBS Lett. 1996;399:75–77.
- Zhong NA, Moroziewicz DN, Ju W, et al. CLN-encoded proteins do not interact with each other. Neurogenetics. 2000;3:41–44.
- Van Houdt JK, Nowakowska BA, Sousa SB, et al. Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet. 2012;44:445.
- Wolff D, Endele S, Azzarello-Burri S, et al. In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Mol Syndromol. 2011;2:237–244.
- Sousa SB, Abdul‐Rahman OA, Bottani A, et al. Nicolaides–Baraitser syndrome: delineation of the phenotype. Am J Med Genet. 2009;149:1628–1640.
- Bramswig NC, Lüdecke H-J, Pettersson M, et al. Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum Genet. 2017;136:179–192.
- Zhang J, Gambin T, Yuan B, et al. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017;136:377–386.
- Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995;11:201.
- Green AJ, Smith M, Yates JR. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet. 1994;6:193.
- van Bakel I, Sepp T, Ward S, et al. Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Hum Mol Genet. 1997;6:1409–1414.
- Au KS, Williams AT, Roach ES, et al. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med. 2007;9:88–100.