Publications
Publications
2023
A cell-autonomous mechanism regulates BCAA catabolism in white adipocytes and systemic metabolic balance.
Aguillard AM, Tzeng J, Ferrer I, Tam BT, Lorenzo DN.
bioRxiv 2023.07.31.551146
The endosomal pH regulator NHE6 is required for insulin-stimulated glucose uptake in adipocytes. Mekile AX, Makena MR, Gupta R, White CJ, Bowman II RW, Patnayak RL, Lorenzo DN, Rao R. bioRxiv 2023.07.30.551163.
2022
Spectrins: molecular organizers and targets of neurological disorders
Lorenzo DN, Slavutsky AL, Edwards, RJ.
Nature Reviews Neuroscience. 2022, 24(4):195-212.
2021
Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A
Creighton BA, Afriyie S, Ajit D, Casingal CR, Voos KM, Reger J, Burch AM, Dyne E, Bay J, Huang JK, Anton ES, Fu MM, Lorenzo DN.
eLife. 2021; 10:e69815.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Cousin MA, Creighton BA, Breau KA, Spillman RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Harper KM, Afriyie S, Bay JC, Beltran AA, Munoz LJ, Falcon-Rodriguez L, 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.
Nature Genetics. 2021; 53, 1006–1021.
Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor Sema 3A
Creighton BA, Ajit D, Afriyie S, Bay J, Lorenzo DN.
bioRxiv preprint. 2021
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.
2016
Ankyrin-B is a PI3P effector that promotes polarized α5β1-integrin recycling via recruiting RabGAP1L to early endosomes
Qu F, Lorenzo DN, King SJ, Brooks R, Bear JE, Bennett V.
eLife. 2016; 5: e20417.
An Adaptable Spectrin/Ankyrin-Based Mechanism for Long-Range Organization of Plasma Membranes in Vertebrate Tissues.
Bennett V, Lorenzo DN.
Current Topics in Membranes. 2016; 77:143-84.
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.