Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome

Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P. Turpin, R [3 cases of partial deletion of the short arm of a 5 chromosome.]. C R Hebd Seances Acad Sci. 1963;257:3098–102.

CAS  PubMed  Google Scholar 

Rodriguez-Caballero A, Torres-Lagares D, Rodriguez-Perez A, Serrera-Figallo MA, Hernandez-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010;15:473–8.

Article  Google Scholar 

Cerruti Mainardi P. Cri du chat syndrome. Orphanet J Rare Dis. 2006;1:33.

Article  PubMed  PubMed Central  Google Scholar 

Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, Hernández A, Biencinto-López C, Martínez-Fernández ML, Barrúz P, Santos-Simarro F, Mori-Álvarez MÁ, Mansilla E, García-Santiago FA, Valcorba I, Sáenz-Rico B, Martínez-Frías ML, Lapunzina P. Phenotyping and genetic characterization of a cohort of 70 individuals with 5p minus syndrome. Front Genet. 2021;12:645595.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cornish KM, Pigram J. Developmental and behavioural characteristics of cri du chat syndrome. Arch Dis Child. 1996;75:448–50.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ajitkumar A, Jamil RT, Mathai JK. Cri Du Chat Syndrome. 2022 Oct 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan

Google Scholar 

Hong JH, Lee HY, Lim MK. Brain stem hypoplasia associated with cri-du-chat syndrome. Korean J Radiol. 2013;14:960–2.

Article  PubMed  PubMed Central  Google Scholar 

Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Spaccini L, Righini A, Greco D, Castiglia L, Romano C, Bedeschi MF. Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations. Eur J Paediatr Neurol. 2020;28:110–9.

Article  CAS  PubMed  Google Scholar 

Cistaro A, Quartuccio N, Piccardo A, Fania P, Spunton M, Liava A, Danesino C, Albani G, Guala A. 18F-FDG PET Identifies altered brain metabolism in patients with Cri du Chat syndrome. J Nucl Med. 2020;61(8):1195–9.

Article  CAS  PubMed  Google Scholar 

Dmetrichuk JM, Chiasson DA, Lu JQ. Neuronal inclusions and α-Synucleinopathy in a patient with 5p deletion syndrome. J Neurol Sci. 2019;15(403):56–8.

Article  Google Scholar 

Corrêa T, Feltes BC, Riegel M. Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. Genet Mol Biol. 2019;42(1 suppl 1):186–96.

Article  PubMed  PubMed Central  Google Scholar 

Israely I, Costa RM, Xie CW, Silva AJ, Kosik KS, Liu X. Deletion of the neuron-specific protein delta-catenin leads to severe cognitive and synaptic dysfunction. Curr Biol. 2004;14:1657–63.

Article  CAS  PubMed  Google Scholar 

Medina M, Marinescu RC, Overhauser J, Kosik KS. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics. 2000;63:157–64.

Article  CAS  PubMed  Google Scholar 

Matter C, Pribadi M, Liu X. Trachtenberg JT Delta-catenin is required for the maintenance of neural structure and function in mature cortex in vivo. Neuron. 2009;64:320–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Belcaro C, Dipresa S, Morini G, Pecile V, Skabar A, Fabretto A. Ctnnd2 deletion and intellectual disability. Gene. 2015;565:146–9.

Article  CAS  PubMed  Google Scholar 

Melin M, Carlsson B, Anckarsater H, Rastam M, Betancur C, Isaksson A, Gillberg C, Dahl C. Constitutional downregulation of SEMA5A expression in autism. Neuropsychobiology. 2006;54:64–9.

Article  CAS  PubMed  Google Scholar 

Conde C, Cáceres A. Microtubule assembly, organization and dynamics in axons and dendrites. Nat Rev Neurosci. 2009;10(5):319–32.

Article  CAS  PubMed  Google Scholar 

De Forges H, Bouissou A, Perez F. Interplay between microtubule dynamics and intracellular organization. Int J Biochem Cell Biol. 2012;44(2):266–74.

Article  PubMed  Google Scholar 

Lehotzky A, Tirián L, Tőkési N. Dynamic targeting of microtubules by TPPP/p25 affects cell survival. J Cell Sci. 2004;117(Pt 25):6249–59.

Article  CAS  PubMed  Google Scholar 

Kovács GG, Gelpi E, Lehotzky A. The brain-specific protein TPPP/p25 in pathological protein deposits of neurodegenerative diseases. Acta Neuropathol. 2007;113(2):153–61.

Article  PubMed  Google Scholar 

Kovács GG, László L, Kovács J, Jensen PH, Lindersson E, Botond G, Molnár T, Perczel A, Hudecz F, Mezo G, Erdei A, Tirián L, Lehotzky A, Gelpi E, Budka H, Ovádi J. Natively unfolded tubulin polymerization promoting protein TPPP/p25 is a common marker of alpha-synucleinopathies. Neurobiol Dis. 2004 Nov;17(2):155–62

Article  PubMed  Google Scholar 

Flores I, Cayuela ML, Blasco MA. Effects of telomerase and telomere length on epidermal stem cell behavior. Science. 2005;309:1253–6.

Article  CAS  PubMed  Google Scholar 

Tomlinson RL, Ziegler TD, Supakorndej T, Terns RM, Terns MP. Cell cycle-regulated trafficking of human telomerase to telomeres. Mol Biol Cell. 2006;17(2):955–65.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Flores I, Blasco MA. The role of telomeres and telomerase in stem cell aging. FEBS Lett. 2010;584:3826–30.

Article  CAS  PubMed  Google Scholar 

Tümpel S, Rudolph KL. The role of telomere shortening in somatic stem cells and tissue aging: lessons from telomerase model systems. Ann NY Acad Sci. 2012;1266:28–39.

Article  PubMed  Google Scholar 

Eitan E, Braverman C, Tichon A, Gitler D, Hutchison ER, Mattson MP, Priel E. Excitotoxic and radiation stress increase TERT levels in the mitochondria and cytosol of cerebellar Purkinje neurons. Cerebellum. 2016;15(4):509–17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Saretzki G. Extra-telomeric function of human telomerase: cancer, mitochondria and oxidative stress. Curr Pharm Des. 2014;20(41):6386–403.

Article  CAS  PubMed  Google Scholar 

Chung HK, Cheong C, Song J, Lee HW. Extratelomeric functions of telomerase. Curr Mol Med. 2005;5(2):233–41.

Article  CAS  PubMed  Google Scholar 

Radeghieri A, Savio G, Zendrini A, Di Noto G, Salvi A, Bergese P, Piovani G. Cultured human amniocytes express hTERT, which is distributed between nucleus and cytoplasm and is secreted in extracellular vesicles. Biochem Biophys Res Commun. 2017;483(1):706–11.

Article  CAS  PubMed  Google Scholar 

Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;126:663–76.

Article  CAS  PubMed  Google Scholar 

Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007;131:861–72.

Article  CAS  PubMed  Google Scholar 

Chhabra A. Derivation of human induced pluripotent stem cell (iPSC) lines and mechanism of pluripotency: historical perspective and recent advances. Stem Cell Rev and Rep. 2017;13(6):757–73.

Article  CAS 

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