Publications

2020

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome
Cousin MA, Breau KA, Creighton BA , Spillman RC, Torti E, Dontu S, Tripathi S, Ajit D, Harper KM, Stankewich MC, Person RE, Si Y, Normand EA , Blevins A, May AS, Bier L, Aggarwal V, Grazia M. S. Mancini, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie J, Brilstra E, van Gassen KLI , van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown S E, Stratton R, Cogne B, Bertrand I, Cacheiro P, Smedley D, Firth HV, Bierhals T, Weiss D, Kloth K, Fairley C , Shieh JT , Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier R, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald M, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Zimmermann MT, Temple B, Moy S, Klee EW, Tan QKG, Lorenzo DN.
medRxiv preprint. 2020

Cargo Hold and Delivery: Ankyrins, Spectrins, and Their Functional Patterning of Neurons
Lorenzo DN.
Cytoskeleton (Hoboken). 2020; 77(3-4):129-148.

2019

βII-spectrin promotes mouse brain connectivity through stabilizing axonal plasma membranes and enabling axonal organelle transport.
Lorenzo DN, Badea A, Zhou R, Mohler PJ, Zhuang X, Bennett V.
Proc. Natl. Acad. Sci. U.S.A. 2019; 116 (31) 15686-15695.

ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity.
Yang R, Walder-Christensen KK, Namsoo Kim, Wu D, Lorenzo DN, Badea A, Jiang YH, Yin H, Wetsel WC, Bennett V.
Proc. Natl. Acad. Sci. U.S.A. 2019. 116(30):15262-1527

Visualizing and analyzing intracellular transport of organelles and other cargo in astrocytes.
Creighton BA, Ruffins TW, Lorenzo DN.
J. Vis. Exp. 2019;(150).

2018

A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice.
Snouwaert JN, Church RJ, Jania L, Nguyen M, Wheeler ML, Saintsing A, Mieczkowski P, Manuel de Villena FP, Armao D, Moy SS, Lorenzo DN, Koller BH.
Cell Rep. 2018; 24(5):1254-1265.

2017

Cell-autonomous adiposity through increased cell surface GLUT4 due to ankyrin-B deficiency.
Lorenzo DN, Bennett V.
Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12743-12748.

2015

Ankyrin-B metabolic syndrome combines age-dependent adiposity with pancreatic β cell insufficiency.
Lorenzo DN, Healy JA, Hostettler J, Davis J, Yang J, Wang C, Hohmeier HE, Zhang M, Bennett V.
The Journal of Clinical Investigation. 2015; 125(8):3087-102.

2014

Developmental mechanism of the periodic membrane skeleton in axons.
Zhong G, He J, Zhou R, Lorenzo D, Babcock HP, Bennett V, Zhuang X.
eLife. 2014; 3.

A PIK3C3-ankyrin-B-dynactin pathway promotes axonal growth and multiorganelle transport.
Lorenzo DN, Badea A, Davis J, Hostettler J, He J, Zhong G, Zhuang X, Bennett V.
The Journal of Cell Biology. 2014; 207(6):735-52.

2013

Spectrin- and ankyrin-based membrane domains and the evolution of vertebrates.
Bennett V, Lorenzo DN.
Current Topics in Membranes. 2013; 72:1-37.

2010

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila..
Lorenzo DN, Li MG, Mische SE, Armbrust KR, Ranum LP, Hays TS.
The Journal of Cell Biology. 2010; 189(1):143-58.

2006

Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5.
Lorenzo DN, Forrest SM, Ikeda Y, Dick KA, Ranum LP, Knight MA.
Neurology. 2006; 67(11):2084-5.

2002

Expression of a single-chain Fv antibody fragment specific for the hepatitis B surface antigen in transgenic tobacco plants.
Ramírez N, Ayala M, Lorenzo D, Palenzuela D, Herrera L, Doreste V, Pérez M, Gavilond JV, Oramas P.
Transgenic Research. 2002; 11(1):61-4.

2001

Expresión de fragmentos de anticuerpos activos en plantas transgénicas de tabaco.
Ramírez N, Ayala M, Oramas P, Gavilondo J, Pérez M, Lorenzo D, Rodríguez M, Herrera L, Palenzuela D, Fuente A, Falcón V, Doreste V.
Biotecnologia Aplicada. 2001 April; 18(2):101.

2000

Single-chain Fv Antibody Fragments specific to the HBsAg produced in recombinant tobacco cell culture.
Ramírez N, Lorenzo DN, Palenzuela D, Herrera L, Fuentes A, Pérez M, Gavilondo J, Oramas P.
Biotechnology Letters, 2000. 22(15):1233-6.