Motta M - Search Results

1

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: motta m. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.

2

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Motta M, Camerini S, Tatti M, Casella M, Torreri P, Crescenzi M, Tartaglia M, Salvioli R. Motta M, et al. Hum Mol Genet. 2014 Nov 1;23(21):5814-26. doi: 10.1093/hmg/ddu299. Epub 2014 Jun 12. Hum Mol Genet. 2014. PMID: 24925315

3

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

Tatti M, Motta M, Scarpa S, Di Bartolomeo S, Cianfanelli V, Tartaglia M, Salvioli R. Tatti M, et al. Among authors: motta m. Hum Mol Genet. 2015 Aug 1;24(15):4198-211. doi: 10.1093/hmg/ddv153. Epub 2015 Apr 29. Hum Mol Genet. 2015. PMID: 25926625

4

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R. Motta M, et al. Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. Clin Genet. 2016. PMID: 26831127

5

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Motta M, Chillemi G, Fodale V, Cecchetti S, Coppola S, Stipo S, Cordeddu V, Macioce P, Gelb BD, Tartaglia M. Motta M, et al. Hum Mol Genet. 2016 Sep 1;25(17):3824-3835. doi: 10.1093/hmg/ddw229. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466182

6

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Pantaleoni F, Lev D, Cirstea IC, Motta M, Lepri FR, Bottero L, Cecchetti S, Linger I, Paolacci S, Flex E, Novelli A, Carè A, Ahmadian MR, Stellacci E, Tartaglia M. Pantaleoni F, et al. Among authors: motta m. Hum Mutat. 2017 Jul;38(7):798-804. doi: 10.1002/humu.23224. Epub 2017 May 3. Hum Mutat. 2017. PMID: 28390077

7

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. Motta M, et al. Hum Mol Genet. 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412. Hum Mol Genet. 2019. PMID: 30481304

8

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W. Zanni G, et al. Among authors: motta m. Cerebellum. 2019 Jun;18(3):422-432. doi: 10.1007/s12311-019-1010-5. Cerebellum. 2019. PMID: 30741391

9

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601

10

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Motta M, Sagi-Dain L, Krumbach OHF, Hahn A, Peleg A, German A, Lissewski C, Coppola S, Pantaleoni F, Kocherscheid L, Altmüller F, Schanze D, Logeswaran T, Chahrokh-Zadeh S, Munzig A, Nakhaei-Rad S, Cavé H, Ahmadian MR, Tartaglia M, Zenker M. Motta M, et al. Hum Mol Genet. 2020 Jul 21;29(11):1772-1783. doi: 10.1093/hmg/ddz108. Hum Mol Genet. 2020. PMID: 31108500

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

1,213 results

Search Page

Filters