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Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.
Chen X, Snanoudj-Verber S, Pollard L, Hu Y, Cathey SS, Tikkanen R, Gray SJ. Chen X, et al. Mol Ther. 2021 Mar 3;29(3):989-1000. doi: 10.1016/j.ymthe.2020.11.012. Epub 2020 Nov 11. Mol Ther. 2021. PMID: 33186692 Free PMC article.
Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disease caused by loss of the enzyme aspartylglucosaminidase (AGA), resulting in AGA substrate accumulation. ...In summary, these results demonstrate that treatment of Aga(-/-) mice with AAV9/AGA is e …
Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disease caused by loss of the enzyme aspartylglucosaminidase …
Aspartylglucosaminuria: Clinical Presentation and Potential Therapies.
Goodspeed K, Feng C, Laine M, Lund TC. Goodspeed K, et al. J Child Neurol. 2021 Apr;36(5):403-414. doi: 10.1177/0883073820980904. Epub 2021 Jan 13. J Child Neurol. 2021. PMID: 33439067 Review.
Aspartylglucosaminuria (AGU) is a recessively inherited neurodegenerative lysosomal storage disease characterized by progressive intellectual disability, skeletal abnormalities, connective tissue overgrowth, gait disturbance, and seizures followed by premature death. AGU i …
Aspartylglucosaminuria (AGU) is a recessively inherited neurodegenerative lysosomal storage disease characterized by progressive inte …
Use of nonviral promoters in adenovirus-mediated gene therapy: reduction of lysosomal storage in the aspartylglucosaminuria mouse.
Virta S, Rapola J, Jalanko A, Laine M. Virta S, et al. J Gene Med. 2006 Jun;8(6):699-706. doi: 10.1002/jgm.892. J Gene Med. 2006. PMID: 16518877
In this study we investigated the efficiency of nonviral promoters in adenovirus-mediated gene therapy. METHODS: The deficient corrective enzyme, AGA, was expressed using two tissue-specific promoters, neuron-specific enolase (NSE), astrocyte-specific (GFAP) and the …
In this study we investigated the efficiency of nonviral promoters in adenovirus-mediated gene therapy. METHODS: The deficient …
A cross-sectional natural history study of aspartylglucosaminuria.
Goodspeed K, Horton D, Lowden A, Sguigna PV, Booth T, Wang ZJ, Edgar VB. Goodspeed K, et al. JIMD Rep. 2022 Jul 14;63(5):425-433. doi: 10.1002/jmd2.12294. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101820 Free PMC article.
Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegeneration in early adulthood. Precision therapies, including gene transfer therapy, are in development with a goal of taking adv …
Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegen …
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria.
Banning A, Gülec C, Rouvinen J, Gray SJ, Tikkanen R. Banning A, et al. Sci Rep. 2016 Nov 23;6:37583. doi: 10.1038/srep37583. Sci Rep. 2016. PMID: 27876883 Free PMC article.
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder that is caused by genetic deficiency of the enzyme aspartylglucosaminidase (AGA) which is involved in glycoprotein degradation. ...Treatment of patient fibroblasts with these compounds results in increased …
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder that is caused by genetic deficiency of the enzyme aspartylglucos …
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
Banning A, Schiff M, Tikkanen R. Banning A, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):668-675. doi: 10.1016/j.bbadis.2017.12.014. Epub 2017 Dec 13. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29247835 Free article.
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by mutations in the gene for aspartylglucosaminidase (AGA). ...Our data show for the first time that Amlexanox might provide a valid therapy for AGU....
Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by mutations in the gene for aspartylglucosaminidase (AGA) …
Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays.
Banning A, Zakrzewicz A, Chen X, Gray SJ, Tikkanen R. Banning A, et al. Cells. 2021 May 19;10(5):1259. doi: 10.3390/cells10051259. Cells. 2021. PMID: 34069698 Free PMC article.
Recombinant adeno-associated viruses (AAV) have emerged as an important tool for gene therapy for human diseases. A prerequisite for clinical approval is an in vitro potency assay that can measure the transduction efficiency of each virus lot produced. ...Using the …
Recombinant adeno-associated viruses (AAV) have emerged as an important tool for gene therapy for human diseases. A prerequisi …
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.
Banning A, Tikkanen R. Banning A, et al. Cells. 2021 Oct 20;10(11):2813. doi: 10.3390/cells10112813. Cells. 2021. PMID: 34831035 Free PMC article.
Such defects frequently result in a complete loss of function of the protein in question. Therapy approaches based on antisense oligonucleotides for specific gene mutations have been developed in the past, but they are very expensive and require invasive, life-long …
Such defects frequently result in a complete loss of function of the protein in question. Therapy approaches based on antisense oligo …
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC. Naumchik BM, et al. Cells. 2020 Jun 5;9(6):1411. doi: 10.3390/cells9061411. Cells. 2020. PMID: 32517081 Free PMC article. Review.
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lysosomal …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, …
The mucopolysaccharidoses and mucolipidoses.
Kelly TE. Kelly TE. Clin Orthop Relat Res. 1976 Jan-Feb;(114):116-33. Clin Orthop Relat Res. 1976. PMID: 131015 Review.
As a group these disorders clinically present with a Hurler-like phenotype. Genetic heterogeneity and variable expression of the same enzyme deficiency require a combined clinical and laboratory approach to the diagnosis of these disorders. ...However, a specific diagnosis …
As a group these disorders clinically present with a Hurler-like phenotype. Genetic heterogeneity and variable expression of the same …
22 results