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701 results

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The following term was not found in PubMed: Gospodini
Page 1
Canavan Disease.
Nagy A, Bley AE, Eichler F. Nagy A, et al. 1999 Sep 16 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 Sep 16 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301412 Free Books & Documents. Review.
The molecular diagnosis is established in an individual with suggestive clinical findings and biallelic ASPA pathogenic variants identified by molecular genetic testing. ...Once the ASPA pathogenic variants have been identified in an affected family member, carrier …
The molecular diagnosis is established in an individual with suggestive clinical findings and biallelic ASPA pathogenic variants iden …
The pathogenesis of, and pharmacological treatment for, Canavan disease.
Wei H, Moffett JR, Amanat M, Fatemi A, Tsukamoto T, Namboodiri AM, Slusher BS. Wei H, et al. Drug Discov Today. 2022 Sep;27(9):2467-2483. doi: 10.1016/j.drudis.2022.05.019. Epub 2022 May 27. Drug Discov Today. 2022. PMID: 35636725 Review.
Canavan disease (CD) is an inherited leukodystrophy resulting from mutations in the gene encoding aspartoacylase (ASPA). ASPA is highly expressed in oligodendrocytes and catalyzes the cleavage of N-acetylaspartate (NAA) to produce aspartate and acetate. In this revi …
Canavan disease (CD) is an inherited leukodystrophy resulting from mutations in the gene encoding aspartoacylase (ASPA). ASPA
Editorial: "AAV Gene Therapy: Immunology and Immunotherapeutics".
Martinez-Navio JM, Paulk NK, Gao G. Martinez-Navio JM, et al. Front Immunol. 2021 Dec 21;12:822389. doi: 10.3389/fimmu.2021.822389. eCollection 2021. Front Immunol. 2021. PMID: 34992614 Free PMC article. No abstract available.
Expression of aspartoacylase (ASPA) and Canavan disease.
Sommer A, Sass JO. Sommer A, et al. Gene. 2012 Sep 1;505(2):206-10. doi: 10.1016/j.gene.2012.06.036. Epub 2012 Jun 28. Gene. 2012. PMID: 22750302
All ASPA mutants tested (ASPA Arg168His, ASPA Pro181Thr, ASPA Tyr288Cys, ASPA Phe295Ser, and ASPA Ala305Glu) showed loss of ASPA activity, which can be explained by the intramolecular effects of the mutations in the enzyme. ...Usin …
All ASPA mutants tested (ASPA Arg168His, ASPA Pro181Thr, ASPA Tyr288Cys, ASPA Phe295Ser, and ASPA
Feline Spongy Encephalopathy With a Mutation in the ASPA Gene.
Takaichi Y, Chambers JK, Shiroma-Kohyama M, Haritani M, Une Y, Yamato O, Nakayama H, Uchida K. Takaichi Y, et al. Vet Pathol. 2021 Jul;58(4):705-712. doi: 10.1177/03009858211002176. Epub 2021 Mar 29. Vet Pathol. 2021. PMID: 33779415
Canavan disease is an autosomal recessive leukodystrophy caused by mutations in the gene encoding aspartoacylase (ASPA), which hydrolyses N-acetylaspartate (NAA) to acetate and aspartate. ...All 4 cats were diagnosed as spongy encephalopathy with a mutation in the ASPA
Canavan disease is an autosomal recessive leukodystrophy caused by mutations in the gene encoding aspartoacylase (ASPA), which hydrol …
Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene.
Chao J, Feng L, Ye P, Chen X, Cui Q, Sun G, Zhou T, Tian E, Li W, Hu W, Riggs AD, Matalon R, Shi Y. Chao J, et al. iScience. 2022 May 11;25(6):104391. doi: 10.1016/j.isci.2022.104391. eCollection 2022 Jun 17. iScience. 2022. PMID: 35637731 Free PMC article.
We then differentiated the WT ASPA-expressing patient iPSCs (ASPA-CD iPSCs) into NPCs and showed that the resultant ASPA-CD NPCs exhibited potent ASPA enzymatic activity. The ASPA-CD NPCs were able to survive in brains of transplanted CD mice. . …
We then differentiated the WT ASPA-expressing patient iPSCs (ASPA-CD iPSCs) into NPCs and showed that the resultant ASPA
Aspartoacylase suppresses prostate cancer progression by blocking LYN activation.
Weng H, Xiong KP, Wang W, Qian KY, Yuan S, Wang G, Yu F, Luo J, Lu MX, Yang ZH, Liu T, Huang X, Zheng H, Wang XH. Weng H, et al. Mil Med Res. 2023 Jun 5;10(1):25. doi: 10.1186/s40779-023-00460-0. Mil Med Res. 2023. PMID: 37271807 Free PMC article.
The inhibitory role of ASPA in PCa was further confirmed using orthotopic and tumor-bearing mouse models. ...Moreover, we observed an inverse relationship between ASPA expression and LYN activity in clinical PCa samples, suggesting a potential regulatory role of …
The inhibitory role of ASPA in PCa was further confirmed using orthotopic and tumor-bearing mouse models. ...Moreover, we observed an …
ASPA adhesion study.
Prodger TE, Symonds M. Prodger TE, et al. Br Dent J. 1977 Oct 18;143(8):266-70. doi: 10.1038/sj.bdj.4803984. Br Dent J. 1977. PMID: 199218 No abstract available.
701 results