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2016

Acampora D, Omodei D, Petrosino G, Garofalo A, Savarese M, Nigro V, Di Giovannantonio LG, Mercadante V, Simeone A (2016). Loss of the Otx2-Binding Site in the Nanog Promoter Affects the Integrity of Embryonic Stem Cell Subtypes and Specification of Inner Cell Mass-Derived Epiblast. Cell Rep 15 (12):2651-2664.

Alliegro M, Ferla R, Nusco E, De Leonibus C, Settembre C, Auricchio A (2016). Low-dose Gene Therapy Reduces the Frequency of Enzyme Replacement Therapy in a Mouse Model of Lysosomal Storage Disease. Mol Ther 24 (12):2054-2063.

Angelini C, Savarese M, Fanin M, Nigro V (2016). Next generation sequencing detection of late onset pompe disease. Muscle Nerve 53 (6):981-983.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR (2016). Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One 11 (4):e0153757.

Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM (2016). Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report. BMC Med Genet 17 (1):25.

Ballabio A (2016). The awesome lysosome. EMBO Mol Med 8 (2):73-76.

Bellomo F, Taranta A, Petrini S, Venditti R, Rocchetti MT, Rega LR, Corallini S, Gesualdo L, De Matteis MA, Emma F (2016). Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting. PLoS One 11 (5):e0154805.

Bennett J, Wellman J, Marshall KA, McCague S, Ashtari M, DiStefano-Pappas J, Elci OU, Chung DC, Sun J, Wright JF, Cross DR, Aravand P, Cyckowski LL, Bennicelli JL, Mingozzi F, Auricchio A, Pierce EA, Ruggiero J, Leroy BP, Simonelli F, High KA, Maguire AM (2016). Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial. Lancet 388 (10045):661-672.

Beznoussenko GV, Ragnini-Wilson A, Wilson C, Mironov AA (2016). Three-dimensional and immune electron microscopic analysis of the secretory pathway in Saccharomyces cerevisiae. Histochem Cell Biol 146 (5):515-527.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R, Group UKRD (2016). An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun 7 11491.

Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefevre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Said S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavac D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Moller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C (2016). An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet 24 (12):1730-1738.

Botta S, Marrocco E, de Prisco N, Curion F, Renda M, Sofia M, Lupo M, Carissimo A, Bacci ML, Gesualdo C, Rossi S, Simonelli F, Surace EM (2016). Rhodopsin targeted transcriptional silencing by DNA-binding. Elife 5 e12242.

Bouche V, Espinosa AP, Leone L, Sardiello M, Ballabio A, Botas J (2016). Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy 12 (3):484-498.

Brunetti-Pierri N, Newsome PN (2016). AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective? J Hepatol 65 (4):666-667.

Calcagni A, Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, Di Fiore PP, Ballabio A (2016). Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling. Elife 5.

Carrella D, Manni I, Tumaini B, Dattilo R, Papaccio F, Mutarelli M, Sirci F, Amoreo CA, Mottolese M, Iezzi M, Ciolli L, Aria V, Bosotti R, Isacchi A, Loreni F, Bardelli A, Avvedimento VE, di Bernardo D, Cardone L (2016). Computational drugs repositioning identifies inhibitors of oncogenic PI3K/AKT/P70S6K-dependent pathways among FDA-approved compounds. Oncotarget 7 (37):58743-58758.

Castello R, Borzone R, D'Aria S, Annunziata P, Piccolo P, Brunetti-Pierri N (2016). Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1. Gene Ther 23 (2):129-134.

Chesi G, Hegde RN, Iacobacci S, Concilli M, Parashuraman S, Festa BP, Polishchuk EV, Di Tullio G, Carissimo A, Montefusco S, Canetti D, Monti M, Amoresano A, Pucci P, van de Sluis B, Lutsenko S, Luini A, Polishchuk RS (2016). Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants. Hepatology 63 (6):1842-1859.

Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Riviere JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C (2016). OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genet 25 (3):497-513.

Cinque L, Forrester A, Settembre C (2016). Autophagy gets to the bone. Cell Cycle 15 (7):871-872.

Concilli M, Iacobacci S, Chesi G, Carissimo A, Polishchuk R (2016). A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease. Metallomics 8 (9):920-930. 

De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA (2016). Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol 18 (8):839-850.

Dehay B, Decressac M, Bourdenx M, Guadagnino I, Fernagut PO, Tamburrino A, Bassil F, Meissner WG, Bezard E (2016). Targeting alpha-synuclein: Therapeutic options. Mov Disord 31 (6):882-888.

di Bernardo D (2016). Linking network topology to function: Comment on "Drivers of structural features in gene regulatory networks: From biophysical constraints to biological function" by O.C. Martin, A. Krzywicki and M. Zagorski. Phys Life Rev 17 159-160. 

Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V (2016). Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet 24 (1):73-77.

Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J (2016). The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech 9 (1):25-38.

Fiore G, Perrino G, di Bernardo M, di Bernardo D (2016). In Vivo Real-Time Control of Gene Expression: A Comparative Analysis of Feedback Control Strategies in Yeast. ACS Synth Biol 5 (2):154-162.

Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C, Italian Network on Congenital M (2016). MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis 11 (1):91.

Fracassi C, Postiglione L, Fiore G, di Bernardo D (2016). Automatic Control of Gene Expression in Mammalian Cells. ACS Synth Biol 5 (4):296-302.

Fraldi A, Klein AD, Medina DL, Settembre C (2016). Brain Disorders Due to Lysosomal Dysfunction. Annu Rev Neurosci 39 277-295.

Franco B, Thauvin-Robinet C (2016). Update on oral-facial-digital syndromes (OFDS). Cilia 5 12. 

Garcia-Prat L, Martinez-Vicente M, Perdiguero E, Ortet L, Rodriguez-Ubreva J, Rebollo E, Ruiz-Bonilla V, Gutarra S, Ballestar E, Serrano AL, Sandri M, Munoz-Canoves P (2016). Autophagy maintains stemness by preventing senescence. Nature 529 (7584):37-42.

Ginocchio VM, Brunetti-Pierri N (2016). Progress toward improved therapies for inborn errors of metabolism. Hum Mol Genet 25 (R1):R27-35. 

Giugliano T, Fanin M, Savarese M, Piluso G, Angelini C, Nigro V (2016). Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results. Neuromuscul Disord 26 (6):367-369. 

Gorrieri G, Scudieri P, Caci E, Schiavon M, Tomati V, Sirci F, Napolitano F, Carrella D, Gianotti A, Musante I, Favia M, Casavola V, Guerra L, Rea F, Ravazzolo R, Di Bernardo D, Galietta LJ (2016). Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release. Sci Rep 6 36016. 

Grandone A, Del Vecchio Blanco F, Torella A, Caruso M, De Luca F, Di Mase R, Messina MF, Salerno MC, Sallemi A, Perone L, Marzuillo P, Miraglia Del Giudice E, Nigro V, Perrone L (2016). Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. Horm Res Paediatr 86 (5):330-336.

Grandone A, Torella A, Santoro C, Giugliano T, Del Vecchio Blanco F, Mutarelli M, Cirillo M, Cirillo G, Piluso G, Capristo C, Festa A, Marzuillo P, Miraglia Del Giudice E, Perrone L, Nigro V (2016). Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. Clin Genet 90 (5):445-450.

Indrieri A, Grimaldi C, Zucchelli S, Tammaro R, Gustincich S, Franco B (2016). Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo. Sci Rep 6 27315. 

Karali M, Persico M, Mutarelli M, Carissimo A, Pizzo M, Singh Marwah V, Ambrosio C, Pinelli M, Carrella D, Ferrari S, Ponzin D, Nigro V, di Bernardo D, Banfi S (2016). High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs. Nucleic Acids Res 44 (4):1525-1540.

Klionsky DJ, Abdelmohsen K, Abe A, ..., Ballabio A, ...,Brumell JH, Brunetti-Pierri N, ... et al (2016). Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 12 (1):1-222.

Martini-Stoica H, Xu Y, Ballabio A, Zheng H (2016). The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective. Trends Neurosci 39 (4):221-234.

Melillo P, Testa F, Rossi S, Di Iorio V, Orrico A, Auricchio A, Simonelli F (2016). En Face Spectral-Domain Optical Coherence Tomography for the Monitoring of Lesion Area Progression in Stargardt Disease. Invest Ophthalmol Vis Sci 57 (9):OCT247-252.

Moey C, Hinze SJ, Brueton L, Morton J, McMullan DJ, Kamien B, Barnett CP, Brunetti-Pierri N, Nicholl J, Gecz J, Shoubridge C (2016). Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. Eur J Hum Genet 24 (3):373-380.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R (2016). Clinical, biochemical and molecular characterization of prosaposin deficiency. Clin Genet 90 (3):220-229.

Napolitano F, Sirci F, Carrella D, di Bernardo D (2016). Drug-set enrichment analysis: a novel tool to investigate drug mode of action. Bioinformatics 32 (2):235-241.

Napolitano G, Ballabio A (2016). TFEB at a glance. J Cell Sci 129 (13):2475-2481.

Nigro V, Savarese M (2016). Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. Curr Opin Neurol 29 (5):621-627.

Olivito L, Saccone P, Perri V, Bachman JL, Fragapane P, Mele A, Huganir RL, De Leonibus E (2016). Phosphorylation of the AMPA receptor GluA1 subunit regulates memory load capacity. Brain Struct Funct 221 (1):591-603.

Pagliarini R, Castello R, Napolitano F, Borzone R, Annunziata P, Mandrile G, De Marchi M, Brunetti-Pierri N, di Bernardo D (2016). In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis. Cell Rep 15 (10):2292-2300.

Pagliuso A, Valente C, Giordano LL, Filograna A, Li G, Circolo D, Turacchio G, Marzullo VM, Mandrich L, Zhukovsky MA, Formiggini F, Polishchuk RS, Corda D, Luini A (2016). Golgi membrane fission requires the CtBP1-S/BARS-induced activation of lysophosphatidic acid acyltransferase delta. Nat Commun 7 12148.

Pesce E, Gorrieri G, Sirci F, Napolitano F, Carrella D, Caci E, Tomati V, Zegarra-Moran O, di Bernardo D, Galietta LJ (2016). Evaluation of a systems biology approach to identify pharmacological correctors of the mutant CFTR chloride channel. J Cyst Fibros 15 (4):425-435.

Piga D, Magri F, Ronchi D, Corti S, Cassandrini D, Mercuri E, Tasca G, Bertini E, Fattori F, Toscano A, Messina S, Moroni I, Mora M, Moggio M, Colombo I, Giugliano T, Pane M, Fiorillo C, D'Amico A, Bruno C, Nigro V, Bresolin N, Comi GP (2016). New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. J Mol Neurosci 59 (3):351-359.

Pinelli M, Carissimo A, Cutillo L, Lai CH, Mutarelli M, Moretti MN, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D (2016). An atlas of gene expression and gene co-regulation in the human retina. Nucleic Acids Res 44 (12):5773-5784.

Polishchuk EV, Polishchuk RS (2016). The emerging role of lysosomes in copper homeostasis. Metallomics 8 (9):853-862.

Reddy K, Cusack CL, Nnah IC, Khayati K, Saqcena C, Huynh TB, Noggle SA, Ballabio A, Dobrowolski R (2016). Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. Cell Rep 14 (9):2166-2179.

Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, Emma F (2016). Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int 89 (4):862-873.

Rocchi A, Milioto C, Parodi S, Armirotti A, Borgia D, Pellegrini M, Urciuolo A, Molon S, Morbidoni V, Marabita M, Romanello V, Gatto P, Blaauw B, Bonaldo P, Sambataro F, Robins DM, Lieberman AP, Soraru G, Vergani L, Sandri M, Pennuto M (2016). Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet. Acta Neuropathol 132 (1):127-144.

Rossi S, De Rosa G, D'Alterio FM, Orrico A, Banfi S, Testa F, Simonelli F (2016). Intrafamilial heterogeneity of congenital optic disc pit maculopathy. Ophthalmic Genet 1-6. 

Rossi S, Maisto R, Gesualdo C, Trotta MC, Ferraraccio F, Kaneva MK, Getting SJ, Surace E, Testa F, Simonelli F, Grieco P, Merlino F, Perretti M, D'Amico M, Di Filippo C (2016). Activation of Melanocortin Receptors MC 1 and MC 5 Attenuates Retinal Damage in Experimental Diabetic Retinopathy. Mediators Inflamm 2016 7368389. 

Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI (2016). Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet 48 (2):144-151.

Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sanpaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evila A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V (2016). The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology 87 (1):71-76.

Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V (2016). Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. Neuromuscul Disord 26 (4-5):292-299.

Schiattarella GG, Cattaneo F, Pironti G, Magliulo F, Carotenuto G, Pirozzi M, Polishchuk R, Borzacchiello D, Paolillo R, Oliveti M, Boccella N, Avvedimento M, Sepe M, Lombardi A, Busiello RA, Trimarco B, Esposito G, Feliciello A, Perrino C (2016). Akap1 Deficiency Promotes Mitochondrial Aberrations and Exacerbates Cardiac Injury Following Permanent Coronary Ligation via Enhanced Mitophagy and Apoptosis. PLoS One 11 (5):e0154076.

Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E (2016). TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. Am J Hum Genet 99 (4):974-983.

Song JX, Sun YR, Peluso I, Zeng Y, Yu X, Lu JH, Xu Z, Wang MZ, Liu LF, Huang YY, Chen LL, Durairajan SS, Zhang HJ, Zhou B, Zhang HQ, Lu A, Ballabio A, Medina DL, Guo Z, Li M (2016). A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition. Autophagy 12 (8):1372-1389.

Sorrentino NC, Fraldi A (2016). Brain Targeting in MPS-IIIA. Pediatr Endocrinol Rev 13 Suppl 1 630-638.

Sorrentino NC, Maffia V, Strollo S, Cacace V, Romagnoli N, Manfredi A, Ventrella D, Dondi F, Barone F, Giunti M, Graham AR, Huang Y, Kalled SL, Auricchio A, Bacci ML, Surace EM, Fraldi A (2016). A Comprehensive Map of CNS Transduction by Eight Recombinant Adeno-associated Virus Serotypes Upon Cerebrospinal Fluid Administration in Pigs. Mol Ther 24 (2):276-286.

Tamburrino A, Decressac M (2016). Aged and Diseased Neurons Get Lost in Transport. Trends Neurosci 39 (4):199-201.

Tebbi A, Levillayer F, Jouvion G, Fiette L, Soubigou G, Varet H, Boudjadja N, Cairo S, Hashimoto K, Suzuki AM, Carninci P, Carissimo A, di Bernardo D, Wei Y (2016). Deficiency of multidrug resistance 2 contributes to cell transformation through oxidative stress. Carcinogenesis 37 (1):39-48.

Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A (2016). De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet 24 (9):1359-1362. 

Testa F, Melillo P, Bonnet C, Marcelli V, de Benedictis A, Colucci R, Gallo B, Kurtenbach A, Rossi S, Marciano E, Auricchio A, Petit C, Zrenner E, Simonelli F (2016). Clinical Presentation and Disease Course of Usher Syndrome Because of Mutations in Myo7a or Ush2a. Retina.

Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Riviere JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C (2016). Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet 90 (6):509-517.

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ, University of Washington Center for Mendelian G, Duffourd Y, Faivre L, Riviere JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB (2016). The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet 48 (6):648-656.

Venditti R, Masone MC, Wilson C, De Matteis MA (2016). PI(4)P homeostasis: Who controls the controllers? Adv Biol Regul 60 105-114.