Connect with Us
facebook "f" logo Hunter's Hope on Twitter youtube logo

Research Publications

    
Basic Science Center
  • Feltri ML, Graus-Porta D, Previtali S, Nodari A, Migliavacca B, Cassetti A, Littlewood-Evans A, Reichardt L, Messing A, Quattrini A, Muller U, Wrabetz L.  Conditional disruption of ß1 integrin in Schwann cells impedes interactions with axons.  J Cell Biol, 156:199-209, 2002.
  • Saito F, Moore SA, Henry MD, Messing A, Ross-Barta SD, Cohn RD, Williamson RA, Sluka KA, Schmelzer JA, Low PA, Wrabetz L, Feltri ML, and Campbell KP. Unique role of dystroglycan in peripheral nerve myelination and sodium channel clustering.  Neuron, 38:747-758, 2003.
  • Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk D, Feltri ML, Cheng Y, Quattrini A, Wrabetz L.  Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis, J. Cell Biol.,167;711-721, 2004.
  • Occhi S, Zambroni D, Del Carro U, Amadio S, Sirkowski EE, Scherer SS, Campbell K, Moore S, Chen Z–L, Strickland S, Di Muzio A, Uncini A, Wrabetz L, Feltri ML.  Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at Nodes of Ranvier.  J. Neurosci., 25:9418-9427, 2005.
  • Wrabetz L, D’Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previtali S, Imperiale D, Zielasek J, Toyka K, Avila R, Kirschner DA, Messing A, Feltri ML and Quattrini A. Different intracellular pathomechanisms produce diverse MPZ-neuropathies in transgenic mice, J. Neurosci., 26:2358-2368, 2006.
  • Givogri I, Galbiati F, Fasano S, Amadio S, Perani L, Superchi D, Morana P, Del Carro U, Marchesini S, Brambilla R, Wrabetz L, Bongarzone E.  Oligodendroglial neural progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy.  J. Neurosci., 26:3109-3119, 2006.
  • Consiglio A, Martino S, Dolcetta D, Cusella G, Conese M, Marchesini S, Benaglia G, Wrabetz L, Orlacchio A, Deglon N, Aebischer P, Severini GM, Bordignon C.. Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts. J Neurol Sci. 255:7-16, 2007.
  • Givogri MI, Bottai D, Fasano S, LaMorte G, Amadio S, Brambilla R, Vescovi A, Wrabetz L and Bongarzone E. Cerebroventricular infusion of adult neural stem cells in newborn MLD mice provides long-term brain neuroprotection. Dev. Neurosci., 30:340-57, 2008.
  • Pennuto M, Tinelli E, Malaguti MC, Del Carro U, Ron D, D’Antonio M, Quattrini A, Feltri ML, Wrabetz L.  Ablation of  the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot Marie Tooth 1B mice. Neuron, 57: 393-405, 2008.
  • Woodhoo A, Duran Alonso M, Droggiti A, Turmaine M, D'Antonio M, Parkinson D, Wilton D, Al-Shawi R, Simons P, Shen J, Guillemot F, Radtke F, Meijer D, Feltri ML , Wrabetz L, Mirsky R and Jessen KR. Notch controls embryonic Schwann cell differentiation, postnatal myelination and adult plasticity.  Nat Neurosci, 12(7):839-847, 2009.
  • Verheijen MHG, Camargo N, Verdier V, Nadra K, de Preux A-S, Medard J-J, Luoma A, Crowther M, Inouye H, Shimano H, Chen S, Brouwers JF, Helms JB, Feltri ML, Wrabetz L, Kirschner D, Chrast R, Smit AB.  SREBP cleavage activation protein (SCAP) is required for timely synthesis of a Schwann cell myelin membrane, PNAS, 106(50):21383-21388, 2009.
  • Taveggia C, Feltri ML, Wrabetz L. Signals to promote formation and repair of myelin. Nat Rev Neurol, 6(5):276-287, 2010.
  • Fratta P, Saveri P, Zambroni D, Ferri C, Tinelli E, Messing A, D’Antonio M, Feltri ML, Wrabetz L. P0S63del impedes the arrival of wildtype P0 glycoprotein to myelin in CMT1B mice. Hum Mol Genet, 20: 2081-2090, 2011.
  • La Marca R, Cerri F, Horiuchi K, Bachi A, Feltri ML, Wrabetz L, Blobel CP, Quattrini A, Salzer JL, Taveggia C.  ADAM17/TACE inhibits Schwann cell myelination. Nat Neurosci, 14:857-65, 2011.
  • Court F, Zambroni D, Pavoni E, Colombelli C, Baragli C, Sorokin L, Ching W, Salzer J, Wrabetz L, Feltri ML. MMP2-9 cleavage of dystroglycan alters the size and molecular composition of Schwann cell domains. J Neurosci, 31:12208-17, 2011.

  Clinical Center

  • Duffner Patricia K, Barczykowski Amy, Jalal Kabir, Yan Li, Kay Denise M, Carter Randy l. Early Infantile Krabbe disease: results of the world-wide Krabbe registry. Pediatric Neurology 45:141-148, 2011. 
  • Tanner AK, Chin ELH, Duffner PK, Hegde M. Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. Orphan Journal of Rare Diseases, 2012 In Press.

HJKRI Sympsoium 
Abstracts by Dr. Patricia Duffner
Presented at the WORLD Lysosomal Disease Network

Early Infantile Krabbe Disease: 
Results from the 
Krabbe World-Wide Registry

The Effect of GALC Activity
on Age of Symptom Onset 
in Krabbe Disease

Later Onset Krabbe Disease (LOKD): Results from the Wold-Wide Registry

Leukodystrophy 
Death Rates in the U.S.

Lysosomal Disease Network 
Dr. Particia Duffner 
Presenting Above Research