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Alessandra Bolino

Research Profile

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Publications

TOP 3
Karim Hnia; Alessandra Bolino; Ilaria Vaccari; Jocelyn Laporte
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Daniela Triolo; Ilaria Vaccari; Angelo Quattrini; Cristina Rivellini; Carla Taveggia; Alessandra Bolino; Federica Cerri; Giorgia Dina; Teuta Domi; Rosa La Marca; Emanuela Porrello; Stefano Carlo Previtali
Vimentin regulates peripheral nerve myelination.
Cristina Rivellini; marina scarlato; Daniela Ungaro; Ubaldo Del Carro; Alessandra Bolino; Federica Cerri; Giancarlo Comi; Giorgia Dina; Teuta Domi; Emanuela Porrello; Angelo Quattrini; Stefano C Previtali
Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies.

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All Publications

2012: Karim Hnia; Alessandra Bolino; Ilaria Vaccari; Jocelyn Laporte
Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
Trends in molecular medicine 2012;18(6):317-27.
2012: Daniela Triolo; Ilaria Vaccari; Angelo Quattrini; Cristina Rivellini; Carla Taveggia; Alessandra Bolino; Federica Cerri; Giorgia Dina; Teuta Domi; Rosa La Marca; Emanuela Porrello; Stefano Carlo Previtali
Vimentin regulates peripheral nerve myelination.
Development (Cambridge, England) 2012;139(7):1359-67.
2012: Cristina Rivellini; marina scarlato; Daniela Ungaro; Ubaldo Del Carro; Alessandra Bolino; Federica Cerri; Giancarlo Comi; Giorgia Dina; Teuta Domi; Emanuela Porrello; Angelo Quattrini; Stefano C Previtali
Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies.
PloS one 2012;7(2):e32059.
2011: Ilaria Vaccari; Lois S Weisman; Lawrence Wrabetz; Federica Cerri; Gaëtan Chicanne; Giorgia Dina; Emily Kaufman; Miriam H Meisler; Bernard Payrastre; Angelo Quattrini; Hélène Tronchère; Alessandra Bolino
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
PLoS genetics 2011;7(10):e1002319.
2010: Sara Benedetti; Stefano C Previtali; Silvia Coviello; marina scarlato; Federica Cerri; Emanuela Di Pierri; Lara Piantoni; Ivana Spiga; R Fazio; Nilo Riva; Maria Grazia Natali Sora; Patrizia Dacci; Mariachiara Malaguti; Elisabetta Munerati; Luigi Maria Edoardo Grimaldi; Maria Giovanna Marrosu; Maurizio De Pellegrin; Maurizio Ferrari; Giancarlo Comi; Angelo Quattrini; Alessandra Bolino
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.
Archives of neurology 2010;67(12):1498-505.
2010: Patrizia Dacci; Giorgia Dina; Federica Cerri; Stefano Carlo Previtali; Ignazio Diego Lopez; Giuseppe Lauria; Maria Laura Feltri; Alessandra Bolino; Giancarlo Comi; Lawrence Wrabetz; Angelo Quattrini
Foot pad skin biopsy in mouse models of hereditary neuropathy.
Glia 2010;58(16):2005-16.
2010: Paolo Solla; Alessandro Vannelli; Alessandra Bolino; Giovanni Marrosu; Silvia Coviello; Maria Rita Murru; Stefania Tranquilli; Daniela Corongiu; Sara Benedetti; Maria Giovanna Marrosu
Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.
Journal of neurology, neurosurgery, and psychiatry 2010;81(9):958-62.
2009: Annalisa Bolis; Silvia Coviello; Ilaria Visigalli; Carla Taveggia; Angela Bachi; Athar H Chishti; Toshihiko Hanada; Angelo Quattrini; Stefano C Previtali; Alessandra Biffi; Alessandra Bolino
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(27):8858-70.
2009: Pil-Soo Seo; Brendan J Quinn; Anwar Khan; Lixiao Zeng; Christos G. Takoudis; Toshihiko Hanada; Annalisa Bolis; Alessandra Bolino; Athar H Chishti
Identification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin.
Experimental biology and medicine (Maywood, N.J.) 2009;234(3):255-62.
2007: Annalisa Bolis; Paola Zordan; Silvia Coviello; Alessandra Bolino
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.
Molecular neurobiology 2007;35(3):308-16.
2007: Stefano C Previtali; Angelo Quattrini; Alessandra Bolino
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
Expert reviews in molecular medicine 2007;9(25):1-16.
2005: Annalisa Bolis; Silvia Coviello; Simona Bussini; Giorgia Dina; Celia Pardini; Stefano C Previtali; Mariachiara Malaguti; Paolo Morana; Ubaldo Del Carro; M Laura Feltri; Angelo Quattrini; Lawrence Wrabetz; Alessandra Bolino
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2005;25(37):8567-77.
2004: Alessandra Bolino; Annalisa Bolis; Stefano C Previtali; Giorgia Dina; Simona Bussini; Gabriele Dati; Stefano Amadio; Ubaldo Del Carro; Dolores D Mruk; M Laura Feltri; C Yan Cheng; Angelo Quattrini; Lawrence Wrabetz
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
The Journal of cell biology 2004;167(4):711-21.
2004: E Bertini; Valérie Biancalana; Alessandra Bolino; Anna Buj-Bello; M Clague; Pascale Guicheney; Heinz Jungbluth; Wolfram Kress; A Musaro'; Harshal H Nandurkar; Luciano Pirola; Norma B Romero; J Senderek; U Suter; Caroline Sewry; H Tronchere; Carina Wallgren-Pettersson; Matthew J Wishart; Jocelyn Laporte
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
Neuromuscular disorders : NMD 2004;14(6):387-96.
2003: Jocelyn Laporte; Florence Bedez; Alessandra Bolino; Jean-Louis Mandel
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.
Human molecular genetics 2003;12 Spec No 2():R285-92.
2003: Stefano C Previtali; Barbara Zerega; Diane L Sherman; Peter J Brophy; Giorgia Dina; Rosalind H M King; Mustafa Salih; Laura Feltri; Angelo Quattrini; Roberto Ravazzolo; Lawrence Wrabetz; Anthony P Monaco; Alessandra Bolino
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Human molecular genetics 2003;12(14):1713-23.
2003: Hamid Azzedine; Alessandra Bolino; T Taïeb; Nazha Birouk; Marco Di Duca; Ahmed Bouhouche; S Benamou; Amel Mrabet; Tarik Hammadouche; Taïeb Chkili; Riadh Gouider; Roberto Ravazzolo; Alexis Brice; Jocelyn Laporte; Eric LeGuern
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
American journal of human genetics 2003;72(5):1141-53.
2002: Alessandra Bolino; Valeria Marigo; Francesca Ferrera; Julie Loader; Leila Romio; Antonio Leoni; Marco Di Duca; Roberta Cinti; Chiara Cecchi; M Laura Feltri; Lawrence Wrabetz; Roberto Ravazzolo; Anthony P Monaco
Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
Gene 2002;283(1-2):17-26.
2001: Alessandra Bolino; Lorne Lonie; M Zimmer; C F Boerkoel; H Takashima; Anthony P Monaco; J R Lupski
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Neurogenetics 2001;3(2):107-9.
2000: Alessandra Bolino; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; Angelo Schenone; A Gambardella; Francesco Bono; A Quattrone; Marcella Devoto; Anthony P Monaco
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Nature genetics 2000;25(1):17-9.
2000: Alessandra Bolino; ER Levy; Maria Muglia; Francesca Luisa Conforti; Eric LeGuern; Mustafa Salih; Domna-Maria Georgiou; Kyproula Christodoulou; I Hausmanowa-Petrusewicz; Paola Mandich; A Gambardella; A Quattrone; Marcella Devoto; Anthony P Monaco
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.
Genomics 2000;63(2):271-8.
1999: Marco Seri; Giuseppe Martucciello; L Paleari; Alessandra Bolino; Manuela Priolo; G Salemi; Paola Forabosco; Francesco Caroli; Roberto Cusano; T Tocco; Margherita Lerone; Armando Cama; M Torre; Jean-Michel Guys; Giovanni Romeo; Vincenzo Jasonni
Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.
Human genetics 1999;104(1):108-10.
1998: Alessandra Bolino; Marco Seri; Francesco Caroli; J Eubanks; J Srinivasan; Paola Mandich; Angelo Schenone; A Quattrone; Giovanni Romeo; W A Catterall; Marcella Devoto
Exclusion of the SCN2B gene as candidate for CMT4B.
European journal of human genetics : EJHG 1998;6(6):629-34.
1998: Alessandra Bolino; Luo Yin; Marco Seri; Roberto Cusano; Roberta Cinti; A Coffey; R Brooksbank; G Howell; D Bentley; Jack R Davis; Arpad Lanyi; Dali Huang; M Stark; M Creaven; Lise Bjørkhaug; F Heitzmann; J Lamartine; S Gaudi; Bakary S Sylla; G M Lenoir; E Castagnola; R Giacchino; G Porta; Brunella Franco; Massimo Zollo; Janos Sumegi; Giovanni Romeo
A new candidate region for the positional cloning of the XLP gene.
European journal of human genetics : EJHG 1998;6(5):509-17.
1998: A Gambardella; Alessandra Bolino; Maria Muglia; Paola Valentino; Francesco Bono; RL Oliveri; M Sabatelli; V Brancolini; Christine Van Broeckhoven; Giovanni Romeo; Marcella Devoto; A Quattrone
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
Neurology 1998;50(3):799-801.
1997: Margherita Lerone; Alessandra Bolino; Giuseppe Martucciello
The genetics of anorectal malformations: a complex matter.
Seminars in pediatric surgery 1997;6(4):170-9.
1997: Marco Seri; L Yin; V Barone; Alessandra Bolino; I Celli; Renata Bocciardi; Barbara Pasini; Isabella Ceccherini; Margherita Lerone; U Kristoffersson; L T Larsson; J M Casasa; D T Cass; M J Abramowicz; J M Vanderwinden; I Kravcenkiene; I Baric; Margherita Silengo; Giuseppe Martucciello; Giovanni Romeo
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Human mutation 1997;9(3):243-9.
1997: Marco Seri; Alessandra Bolino; L J Galietta; Margherita Lerone; Margherita Silengo; Giovanni Romeo
Startle disease in an Italian family by mutation (K276E): The alpha-subunit of the inhibiting glycine receptor.
Human mutation 1997;9(2):185-7.
1996: Alessandra Bolino; V Brancolini; Francesco Bono; A Bruni; A Gambardella; Giovanni Romeo; A Quattrone; Marcella Devoto
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing.
Human molecular genetics 1996;5(7):1051-4.
1996: A Quattrone; A Gambardella; Francesco Bono; Umberto Aguglia; Alessandra Bolino; A C Bruni; M P Montesi; RL Oliveri; M Sabatelli; O Tamburrini; Paola Valentino; Christine Van Broeckhoven; Mario Zappia
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.
Neurology 1996;46(5):1318-24.
1996: SE Lloyd; SH Pearce; Simon E Fisher; Klaus Steinmeyer; B Schwappach; Steven J Scheinman; Brian Harding; Alessandra Bolino; M Devoto; Paul Goodyer; S P Rigden; Oliver Wrong; Thomas J Jentsch; IW Craig; Rajesh V Thakker
A common molecular basis for three inherited kidney stone diseases.
Nature 1996;379(6564):445-9.
1995: Alessandra Bolino; I Schuffenecker; Y Luo; Marco Seri; Margherita Silengo; T Tocco; G Chabrier; C Houdent; Arnaud Murat; M Schlumberger
RET mutations in exons 13 and 14 of FMTC patients.
Oncogene 1995;10(12):2415-9.
1995: Isabella Ceccherini; Robert M W Hofstra; Y Luo; Rein P Stulp; V Barone; T Stelwagen; Renata Bocciardi; H Nijveen; Alessandra Bolino; Marco Seri
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
Oncogene 1995;10(6):1257.
1994: Isabella Ceccherini; Robert M W Hofstra; Y Luo; Rein P Stulp; V Barone; T Stelwagen; Renata Bocciardi; H Nijveen; Alessandra Bolino; Marco Seri
DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.
Oncogene 1994;9(10):3025-9.
1994: Luo Yin; V Barone; Marco Seri; Alessandra Bolino; Renata Bocciardi; Isabella Ceccherini; Barbara Pasini; T Tocco; Margherita Lerone; S Cywes
Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.
European journal of human genetics : EJHG 1994;2(4):272-80.
1993: Stanislas LYONNET; Alessandra Bolino; Anna Pelet; L Abel; C Nihoul-Fékété; M L Briard; V Mok-Siu; H Kaariainen; Giuseppe Martucciello; Margherita Lerone; M Devoto; Y Luo; A Munnich; A Puliti; J Weissenbach; G Romeo
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.
Nature genetics 1993;4(4):346-50.
1993: A Puliti; A E Covone; M P Bicocchi; Alessandra Bolino; Margherita Lerone; Giuseppe Martucciello; Vincenzo Jasonni; Giovanni Romeo
Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.
Cytogenetics and cell genetics 1993;63(2):102-6.
1993: Alessandra Bolino; Marcella Devoto; Giuseppe Enia; C Zoccali; J Weissenbach; Giovanni Romeo
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.
European journal of human genetics : EJHG 1993;1(4):269-79.