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.

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.

Berti C, Bartesaghi L, Ghidinelli M, Zambroni D, Figlia G, Chen Z-L, Quattrini A, Wrabetz L, Feltri ML.  Non-redundant function of dystroglycan and Beta 1 integrins in radial sorting of axons.  Development, 138(18):4025-37, 2011.

D‘Antonio M, Musner N, Scapin C, Ungaro D, Del Carro U, Ron D, Feltri ML, Wrabetz L. Resetting translational homeostasis via Inactivation of Gadd34 Restores Myelination in CMT1B Mice. J Exp Med. 2013.

Clinical Care Center

Duffner PK, Jalal K, Carter RL. The Hunter’s Hope Krabbe Family Database. Pediatric Neurology 2009: 40:13-18.

Duffner Patricia K, Caviness VS, Erbe RW. Patterson MC, Schultz KR, Wenger DA, Whitley C. The Long Term outcomes of Presymptomatic infants transplanted for Krabbe disease: Report of the workshop held July 11 and 12, 2008, Holiday Valley, New York.   Genetics in Medicine 11:450-454, 2009.

Duffner Patricia K, et al Newborn Screening for Krabbe Disease: The NYS model. Pediatric Neurology 40:245-252, 2009.

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.

Duffner Patricia K. Duffner MD, Barczykowski Amy MS, Kay Denise M. PhD, Jalal Kabir MA, Yan Li PhD, Abdelhalim Ahmed MD, Gill Steven PhD, Lindley Gill Ann MS, Carter Randy PhD Later Onset Phenotypes of Krabbe Disease: Results of the World Wide Registry. Pediatric Neurology 46:298-306, 2012.

Duffner Patricia K. MD, Granger Carl MD, Lyon Nancy CPNP, Niewczyk Paulette PhD, Barczykowski Amy MS, Bauer Sarah MD, and Msall Michael E. MD Developmental and Functional Outcomes in Children with a Positive Newborn Screen for Krabbe Disease: A Pilot Study of a Phone-Based Interview Surveillance Technique. The Journal of Pediatrics, 2012.

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.

Barczykowski Amy MS, Foss Alexander, Duffner Patricia K. MD, Yan Li PhD, Carter Randy PhD Death Rates in the U.S Due to Krabbe Disease and Related Leukodystrophies and Lysosomal Storage Diseases. American Journal of Medical Genetics, 2012.

Foss Alexander H., Duffner Patricia K., Carter Randy L. Lifetime Risk Estimators in Epidemiological studies in Krabbe Disease: Review and Monte Carlo Comparison. Rare Diseases 2013,1:e25212.

Abdelhalim Ahmed MD, Alberico Ronald MD, Barczykowski Amy MS, Duffner Patricia MD Patterns of Magnetic Resonance Imaging Abnormalities in Symptomatic Patients with Krabbe Disease Correspond to Phenotype. Pediatric Neurology. 2014.

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 World-Wide Registry

Leukodystrophy Death Rates in the U.S.