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Items: 17

1.

Biallelic mutations in NRROS cause an early onset lethal microgliopathy.

Smith C, McColl BW, Patir A, Barrington J, Armishaw J, Clarke A, Eaton J, Hobbs V, Mansour S, Nolan M, Rice GI, Rodero MP, Seabra L, Uggenti C, Livingston JH, Bridges LR, Jeffrey IJM, Crow YJ.

Acta Neuropathol. 2020 Feb 25. doi: 10.1007/s00401-020-02137-7. [Epub ahead of print] No abstract available.

PMID:
32100099
2.

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defined by differentially enhanced interferon-α signalling.

Melki I, Devilliers H, Gitiaux C, Bondet V, Duffy D, Charuel JL, Miyara M, Bokov P, Kheniche A, Kwon T, Authier FJ, Allenbach Y, Belot A, Bodemer C, Bourrat E, Dumaine C, Fabien N, Faye A, Frémond ML, Hadchouel A, Kitabayashi N, Lepelley A, Martin-Niclos MJ, Mudumba S, Musset L, Quartier P, Rice GI, Seabra L, Uettwiller F, Uggenti C, Viel S, Rodero MP, Crow YJ, Bader-Meunier B.

Rheumatology (Oxford). 2019 Nov 22. pii: kez525. doi: 10.1093/rheumatology/kez525. [Epub ahead of print]

PMID:
31755959
3.

A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1.

Wood SR, McClements ME, Martinez-Fernandez de la Camara C, Patrício MI, Uggenti C, Sekaran S, Barnard AR, Manson FD, MacLaren RE.

Hum Gene Ther Methods. 2019 Apr;30(2):44-52. doi: 10.1089/hgtb.2018.267.

PMID:
30963787
4.

Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

Uggenti C, Lepelley A, Crow YJ.

Annu Rev Immunol. 2019 Apr 26;37:247-267. doi: 10.1146/annurev-immunol-042718-041257. Epub 2019 Jan 11.

PMID:
30633609
5.

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ.

N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. No abstract available.

6.

Taking the STING out of inflammation.

Uggenti C, Crow YJ.

Nat Rev Rheumatol. 2018 Sep;14(9):508-509. doi: 10.1038/s41584-018-0071-z. No abstract available.

PMID:
30108365
7.

Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Ruaud L, Rice GI, Cabrol C, Piard J, Rodero M, van Eyk L, Boucher-Brischoux E, de Noordhout AM, Maré R, Scalais E, Pauly F, Debray FG, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Van Maldergem L.

Hum Mutat. 2018 Aug;39(8):1076-1080. doi: 10.1002/humu.23554. Epub 2018 Jun 4.

8.

Sort Your Self Out!

Uggenti C, Crow YJ.

Cell. 2018 Feb 8;172(4):640-642. doi: 10.1016/j.cell.2018.01.023.

9.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ.

Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3.

10.

Brief Report: Blockade of TANK-Binding Kinase 1/IKKɛ Inhibits Mutant Stimulator of Interferon Genes (STING)-Mediated Inflammatory Responses in Human Peripheral Blood Mononuclear Cells.

Frémond ML, Uggenti C, Van Eyck L, Melki I, Bondet V, Kitabayashi N, Hertel C, Hayday A, Neven B, Rose Y, Duffy D, Crow YJ, Rodero MP.

Arthritis Rheumatol. 2017 Jul;69(7):1495-1501. doi: 10.1002/art.40122. Epub 2017 Jun 5.

11.

Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. No abstract available.

PMID:
28138155
12.

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki I, Rose Y, Uggenti C, Van Eyck L, Frémond ML, Kitabayashi N, Rice GI, Jenkinson EM, Boulai A, Jeremiah N, Gattorno M, Volpi S, Sacco O, Terheggen-Lagro SWJ, Tiddens HAWM, Meyts I, Morren MA, De Haes P, Wouters C, Legius E, Corveleyn A, Rieux-Laucat F, Bodemer C, Callebaut I, Rodero MP, Crow YJ.

J Allergy Clin Immunol. 2017 Aug;140(2):543-552.e5. doi: 10.1016/j.jaci.2016.10.031. Epub 2017 Jan 10. Erratum in: J Allergy Clin Immunol. 2017 Dec;140(6):1757.

PMID:
28087229
13.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ.

Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Erratum in: Nat Genet. 2017 Jan 31;49(2):317.

14.

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.

Uggenti C, Briant K, Streit AK, Thomson S, Koay YH, Baines RA, Swanton E, Manson FD.

Dis Model Mech. 2016 Nov 1;9(11):1317-1328. Epub 2016 Aug 12.

15.

The Plasma Membrane Calcium Pump in Pancreatic Cancer Cells Exhibiting the Warburg Effect Relies on Glycolytic ATP.

James AD, Patel W, Butt Z, Adiamah M, Dakhel R, Latif A, Uggenti C, Swanton E, Imamura H, Siriwardena AK, Bruce JI.

J Biol Chem. 2015 Oct 9;290(41):24760-71. doi: 10.1074/jbc.M115.668707. Epub 2015 Aug 20.

16.

M2 muscarinic receptor activation regulates Schwann cell differentiation and myelin organization.

Uggenti C, De Stefano ME, Costantino M, Loreti S, Pisano A, Avallone B, Talora C, Magnaghi V, Tata AM.

Dev Neurobiol. 2014 Jul;74(7):676-91. doi: 10.1002/dneu.22161. Epub 2014 Jan 9.

17.

The analgesic effect on neuropathic pain of retrogradely transported botulinum neurotoxin A involves Schwann cells and astrocytes.

Marinelli S, Vacca V, Ricordy R, Uggenti C, Tata AM, Luvisetto S, Pavone F.

PLoS One. 2012;7(10):e47977. doi: 10.1371/journal.pone.0047977. Epub 2012 Oct 24.

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