Ballabio A - Search Results

1

Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.

de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. de Pablo-Latorre R, et al. Among authors: ballabio a. Hum Mol Genet. 2012 Apr 15;21(8):1770-81. doi: 10.1093/hmg/ddr610. Epub 2012 Jan 3. Hum Mol Genet. 2012. PMID: 22215441 Free PMC article.

2

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Ballabio A, et al. Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422. Hum Genet. 1987. PMID: 3480263

3

Drosophila-related expressed sequences.

Banfi S, Borsani G, Bulfone A, Ballabio A. Banfi S, et al. Among authors: ballabio a. Hum Mol Genet. 1997;6(10):1745-53. doi: 10.1093/hmg/6.10.1745. Hum Mol Genet. 1997. PMID: 9300667 Review.

4

The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region.

Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, Disteche CM, Rugarli EI. Dal Zotto L, et al. Among authors: ballabio a. Hum Mol Genet. 1998 Mar;7(3):489-99. doi: 10.1093/hmg/7.3.489. Hum Mol Genet. 1998. PMID: 9467009

5

The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function.

Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S, Ballabio A. Bulfone A, et al. Among authors: ballabio a. Hum Mol Genet. 1998 Dec;7(13):1997-2006. doi: 10.1093/hmg/7.13.1997. Hum Mol Genet. 1998. PMID: 9817915

6

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle.

Cainarca S, Messali S, Ballabio A, Meroni G. Cainarca S, et al. Among authors: ballabio a. Hum Mol Genet. 1999 Aug;8(8):1387-96. doi: 10.1093/hmg/8.8.1387. Hum Mol Genet. 1999. PMID: 10400985

7

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.

Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. Buchner G, et al. Among authors: ballabio a. Hum Mol Genet. 1999 Aug;8(8):1397-407. doi: 10.1093/hmg/8.8.1397. Hum Mol Genet. 1999. PMID: 10400986

8

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A. Incerti B, et al. Among authors: ballabio a. Hum Mol Genet. 2000 Nov 22;9(19):2781-8. doi: 10.1093/hmg/9.19.2781. Hum Mol Genet. 2000. PMID: 11092754

9

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.

d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. d'Addio M, et al. Among authors: ballabio a. Hum Mol Genet. 2000 Dec 12;9(20):3011-8. doi: 10.1093/hmg/9.20.3011. Hum Mol Genet. 2000. PMID: 11115845

10

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

Errico A, Ballabio A, Rugarli EI. Errico A, et al. Among authors: ballabio a. Hum Mol Genet. 2002 Jan 15;11(2):153-63. doi: 10.1093/hmg/11.2.153. Hum Mol Genet. 2002. PMID: 11809724

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