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Page 1
Sialidoses.
Franceschetti S, Canafoglia L. Franceschetti S, et al. Epileptic Disord. 2016 Sep 1;18(S2):89-93. doi: 10.1684/epd.2016.0845. Epileptic Disord. 2016. PMID: 27621198 Review.
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysosto …
Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. …
AAV-mediated gene therapy for sialidosis.
van de Vlekkert D, Hu H, Weesner JA, Fremuth LE, Brown SA, Lu M, Gomero E, Campos Y, Sheppard H, d'Azzo A. van de Vlekkert D, et al. Mol Ther. 2024 Jul 3;32(7):2094-2112. doi: 10.1016/j.ymthe.2024.05.029. Epub 2024 May 25. Mol Ther. 2024. PMID: 38796704 Free PMC article.
Sialidosis (mucolipidosis I) is a glycoprotein storage disease, clinically characterized by a spectrum of systemic and neurological phenotypes. ...These findings point to AAV-mediated gene therapy as a suitable treatment for sialidosis and possibly oth …
Sialidosis (mucolipidosis I) is a glycoprotein storage disease, clinically characterized by a spectrum of systemic and …
Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.
Riboldi GM, Martone J, Rizzo JR, Hudson TE, Rucker JC, Frucht SJ. Riboldi GM, et al. Tremor Other Hyperkinet Mov (N Y). 2021 Dec 9;11:53. doi: 10.5334/tohm.652. eCollection 2021. Tremor Other Hyperkinet Mov (N Y). 2021. PMID: 34992946 Free PMC article.
Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. ...
Sialidosis type 1 is a rare lysosomal storage disorder caused by mutations of the neuraminidase gene. ...
Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.
Liu SP, Hsu YH, Huang CY, Ho MC, Cheng YC, Wen CH, Lu HE, Tsai CH, Shyu WC, Hsieh PCH. Liu SP, et al. Stem Cell Res. 2018 Apr;28:39-43. doi: 10.1016/j.scr.2018.01.024. Epub 2018 Jan 31. Stem Cell Res. 2018. PMID: 29414417 Free article.
Sialidosis is a rare autosomal recessive disorder that affects the intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in NEU1, which encodes the sialidase enzyme, result in sialidosis. Sialidosis is …
Sialidosis is a rare autosomal recessive disorder that affects the intralysosomal catabolism of sialylated glycoconjugates and is inv …
Deep brain stimulation for Myoclonus in sialidosis I.
Liu JY, Ouyang Y, Lv H, Liu Y, Yu HM, Hu JQ, Chu DW, Li ZP, Ou SW, Wang J. Liu JY, et al. Parkinsonism Relat Disord. 2023 Jun;111:105434. doi: 10.1016/j.parkreldis.2023.105434. Epub 2023 May 6. Parkinsonism Relat Disord. 2023. PMID: 37167833 No abstract available.
Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II).
Prasanna P, Sriram CS, Rodriguez SH, Kohli U. Prasanna P, et al. Cardiol Young. 2021 May;31(5):862-864. doi: 10.1017/S1047951120004953. Epub 2021 Jan 28. Cardiol Young. 2021. PMID: 33507140 Review.
Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical pre …
Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We re …
Two cases of type I sialidosis and a literature review.
Ding Y, Cheng M, Gong C. Ding Y, et al. Orphanet J Rare Dis. 2024 Nov 27;19(1):440. doi: 10.1186/s13023-024-03431-3. Orphanet J Rare Dis. 2024. PMID: 39605025 Free PMC article. Review.
OBJECTIVE: This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chinese children with those reported in prior literature. The goal is to elucidate the clinical and genetic features of type I sialidosis …
OBJECTIVE: This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chin …
Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.
Itoh K, Tsukimoto J. Itoh K, et al. Glycoconj J. 2023 Dec;40(6):611-619. doi: 10.1007/s10719-023-10135-6. Epub 2023 Dec 26. Glycoconj J. 2023. PMID: 38147151 Review.
In contrast, overexpression of the single NEU1 gene in mammalian cells causes intracellular NEU1 protein crystallization in the RER due to self-aggregation when intracellular CTSA is reduced to a relatively low level. Sialidosis (SiD) and galactosialidosis (GS) are autosom …
In contrast, overexpression of the single NEU1 gene in mammalian cells causes intracellular NEU1 protein crystallization in the RER due to s …
An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca(2+) dynamics.
Odaka H, Numakawa T, Soga M, Kido J, Matsumoto S, Kajihara R, Okumiya T, Tani N, Tanoue Y, Fukuda T, Furuya H, Inoue T, Era T. Odaka H, et al. Neurobiol Dis. 2021 May;152:105279. doi: 10.1016/j.nbd.2021.105279. Epub 2021 Jan 29. Neurobiol Dis. 2021. PMID: 33516873 Free article.
Sialidosis NPCs and neurons mimicked the disease-like phenotypes including reduced neuraminidase activity, accumulation of sialyl-oligoconjugates and lysosomal expansions. ...Our present study provides new insights into both the neuronal pathophysiology and potential thera …
Sialidosis NPCs and neurons mimicked the disease-like phenotypes including reduced neuraminidase activity, accumulation of sialyl-oli …
Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.
Seol B, Kim YD, Cho YS. Seol B, et al. Int J Mol Sci. 2021 Apr 22;22(9):4386. doi: 10.3390/ijms22094386. Int J Mol Sci. 2021. PMID: 33922276 Free PMC article.
Characterization of NEU1(G227R)- and NEU1(V275A/R347Q)- mutated iNPCs derived from sialidosis-iPSCs (sialidosis-iNPCs) validated that sialidosis-iNPCs faithfully recapitulate key disease-specific phenotypes, including reduced NEU1 activity and impaired lysoso …
Characterization of NEU1(G227R)- and NEU1(V275A/R347Q)- mutated iNPCs derived from sialidosis-iPSCs (sialidosis-iNPCs) validat …
47 results