Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

Jurecka, 2015, Adenylosuccinate lyase deficiency, J. Inherit. Metab. Dis., 38, 231, 10.1007/s10545-014-9755-y Tavazzi, 2005, Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism, Clin. Biochem., 38, 997, 10.1016/j.clinbiochem.2005.08.002 Kmoch, 2000, Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients, Hum. Mol. Genet., 9, 1501, 10.1093/hmg/9.10.1501 Jurecka, 2008, Clinical, biochemical and molecular findings in seven polish patients with adenylosuccinate lyase deficiency, Mol. Genet. Metab., 94, 435, 10.1016/j.ymgme.2008.04.013 Zikanova, 2010, Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency, Hum. Mutat., 31, 445, 10.1002/humu.21212 C1, 2019, VarSome: the human genomic variant search engine, Bioinformatics., 35, 1978, 10.1093/bioinformatics/bty897 Richards, 2015, 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., 17, 405, 10.1038/gim.2015.30 Sanderson, 2014, Trinkaus-Randall vet al purines in the eye: recent evidence for the physiological and pathological role of purines in the RPE, retinal neurons, astrocytes, Müller cells, lens, trabecular meshwork, cornea and lacrimal gland, Exp. Eye Res., 127, 270, 10.1016/j.exer.2014.08.009 Guzman-Aranguez, 2013, Nucleotides in the eye: focus on functional aspects and therapeutic perspectives, J. Pharmacol. Exp. Ther., 345, 331, 10.1124/jpet.112.202473 Mitchell, 2008, Purinergic signalling in the subretinal space: a role in the communication between the retina and the RPE, Purinergic Signal, 4, 101, 10.1007/s11302-007-9054-2 Niyadurupola, 2013, P2X7 receptor activation mediates retinal ganglion cell death in a human retina model of ischemic neurodegeneration, Invest. Ophthalmol. Vis. Sci., 54, 2163, 10.1167/iovs.12-10968 Westall, 2014, Vigabatrin retinal toxicity in children with infantile spasms: an observational cohort study, Neurology, 83, 2262, 10.1212/WNL.0000000000001069 Wright, 2017, Vigabatrin toxicity in infancy is associated with retinal defect in adolescence: a prospective observational study, Retina., 37, 858, 10.1097/IAE.0000000000001246 Mazzitello, 2009, Formation and growth of lipofuscin in the retinal pigment epithelium cells, Phys. Rev. E Stat. Nonlinear Soft Matter Phys., 80 Guha, 2014, Approaches for detecting lysosomal alkalinization and impaired degradation in fresh and cultured RPE cells: evidence for a role in retinal degenerations, Exp. Eye Res., 126, 68, 10.1016/j.exer.2014.05.013 Puri, 2010, Neuronal ceroid lipofuscinosis diagnosed via skin biopsy, J. Clin. Neurosci., 17, 1585, 10.1016/j.jocn.2010.03.027 Anderson, 2013, Human pathology in NCL, Biochim. Biophys. Acta, 1832, 1807, 10.1016/j.bbadis.2012.11.014 Israeli, 2018, Opposing effects of intracellular versus extracellular adenine nucleotides on autophagy: implications for β-cell function, J. Cell Sci., 131, 10.1242/jcs.212969 Mierzewska, 2008, Lewandowska E et al clinical, biochemical, neuropathological and molecular findings of the first polish case of adenylosuccinase deficiency, Folia Neuropathol., 46, 81 Mierzewska, 2009, Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of polish patients, Folia Neuropathol., 47, 314 Masuelli, 2017, Chloroquine supplementation increases the cytotoxic effect of curcumin against Her2/neu overexpressing breast cancer cells in vitro and in vivo in nude mice while counteracts it in immune competent mice, Oncoimmunology., 6, 10.1080/2162402X.2017.1356151