Lombardi A - Search Results

1

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Annunziata I, et al. Among authors: lombardi a. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9504. Hum Mutat. 2007. PMID: 17657823

2

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.

Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, Cosma MP. Fraldi A, et al. Among authors: lombardi a. Biochem J. 2007 Apr 15;403(2):305-12. doi: 10.1042/BJ20061783. Biochem J. 2007. PMID: 17206939 Free PMC article.

3

Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.

Fraldi A, Hemsley K, Crawley A, Lombardi A, Lau A, Sutherland L, Auricchio A, Ballabio A, Hopwood JJ. Fraldi A, et al. Among authors: lombardi a. Hum Mol Genet. 2007 Nov 15;16(22):2693-702. doi: 10.1093/hmg/ddm223. Epub 2007 Aug 27. Hum Mol Genet. 2007. PMID: 17725987

4

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, Cosma MP. Fraldi A, et al. Among authors: lombardi a. Hum Mol Genet. 2008 Sep 1;17(17):2610-21. doi: 10.1093/hmg/ddn161. Epub 2008 May 28. Hum Mol Genet. 2008. PMID: 18508857 Free article.

5

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Fraldi A, et al. Among authors: lombardi a. EMBO J. 2010 Nov 3;29(21):3607-20. doi: 10.1038/emboj.2010.237. Epub 2010 Sep 24. EMBO J. 2010. PMID: 20871593 Free PMC article.

6

Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation.

Esposito T, De Stefano G, Reccia MG, Di Lorenzo I, Napolitano F, Scalabrì F, Lombardi A, Saleem MA, Griffiths LR, Gianfrancesco F. Esposito T, et al. Among authors: lombardi a. Nephron. 2017;136(2):143-150. doi: 10.1159/000455129. Epub 2017 Feb 9. Nephron. 2017. PMID: 28178702

7

Functional Antagonism between OTX2 and NANOG Specifies a Spectrum of Heterogeneous Identities in Embryonic Stem Cells.

Acampora D, Di Giovannantonio LG, Garofalo A, Nigro V, Omodei D, Lombardi A, Zhang J, Chambers I, Simeone A. Acampora D, et al. Among authors: lombardi a. Stem Cell Reports. 2017 Nov 14;9(5):1642-1659. doi: 10.1016/j.stemcr.2017.09.019. Epub 2017 Oct 19. Stem Cell Reports. 2017. PMID: 29056334 Free PMC article.

8

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Gialluisi A, Reccia MG, Modugno N, Nutile T, Lombardi A, Di Giovannantonio LG, Pietracupa S, Ruggiero D, Scala S, Gambardella S; International Parkinson’s Disease Genomics Consortium (IPDGC); Iacoviello L, Gianfrancesco F, Acampora D, D'Esposito M, Simeone A, Ciullo M, Esposito T. Gialluisi A, et al. Among authors: lombardi a. Mol Neurodegener. 2021 Jun 21;16(1):35. doi: 10.1186/s13024-021-00455-2. Mol Neurodegener. 2021. PMID: 34148545 Free PMC article.

9

Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population.

Gialluisi A, Reccia MG, Tirozzi A, Nutile T, Lombardi A, De Sanctis C; International Parkinson's Disease Genomic Consortium (IPDGC); Varanese S, Pietracupa S, Modugno N, Simeone A, Ciullo M, Esposito T. Gialluisi A, et al. Among authors: lombardi a. Front Neurol. 2020 Jan 10;10:1362. doi: 10.3389/fneur.2019.01362. eCollection 2019. Front Neurol. 2020. PMID: 31998221 Free PMC article.

10

Analysis of Genetic and Non-genetic Predictors of Levodopa Induced Dyskinesia in Parkinson's Disease.

Tirozzi A, Modugno N, Palomba NP, Ferese R, Lombardi A, Olivola E, Gialluisi A, Esposito T. Tirozzi A, et al. Among authors: lombardi a. Front Pharmacol. 2021 Apr 29;12:640603. doi: 10.3389/fphar.2021.640603. eCollection 2021. Front Pharmacol. 2021. PMID: 33995045 Free PMC article.

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