Publications:  Dr Leonardo Guasti

Mancini A, Howard SR, Marelli F, Cabrera CP, Barnes MR, Sternberg MJ, Leprovots M, Hadjidemetriou I et al.(2020). LGR4 deficiency results in delayed puberty through impaired Wnt/β-catenin signaling. JCI insight vol. 5, (11)

Mariniello K, Ruiz-Babot G, McGaugh EC, Nicholson JG, Gualtieri A, Gaston-Massuet C, Nostro MC, Guasti L(2019). Stem Cells, Self-Renewal, and Lineage Commitment in the Endocrine System. Frontiers in Endocrinology vol. 10,

Liew SY, Akker SA, Guasti L, Pittaway JFH(2019). Glucocorticoid replacement therapies: past, present and future. Current Opinion in Endocrine and Metabolic Research vol. 8, 152-159.

Saengkaew T, Mancini A, Ruiz-Babot G, Cabrera C, Barnes M, Dunkel L, Guasti L, Howard S (2019). Defects in the GnRH Neuroendocrine Network Affect the Timing of Puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 67-67.

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Vassart G, Cariboni A et al. (2019). LGR 4-Wnt beta-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 46-46.

Guasti L (2019). Novel interventions to treat adrenal insufficiency. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 8-9.

Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF(2019). ACTH signalling and adrenal development: Lessons from mouse models. Endocrine Connections vol. 8, (7) R122-R130.

Hadjidemetriou I, Mariniello K, Ruiz-Babot G, Pittaway J, Mancini A, Mariannis D, Gomez-Sanchez CE, Parvanta L et al.(2019). DLK1/PREF1 marks a novel cell population in the human adrenal cortex. The Journal of Steroid Biochemistry and Molecular Biology vol. 193,

Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L(2019). Isolated glucocorticoid deficiency: Genetic causes and animal models. Journal of Steroid Biochemistry and Molecular Biology vol. 189, 73-80.

Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, Heger S, Lomniczi A et al.(2019). EAP1 regulation of GnRH promoter activity is important for human pubertal timing. Human Molecular Genetics vol. 28, (8) 1357-1368.

Papathomas TG, Sun N, Chortis V, Taylor AE, Arlt W, Richter S, Eisenhofer G, Ruiz-Babot G et al.(2019). Novel methods in adrenal research: a metabolomics approach. Histochemistry and Cell Biology vol. 151, (3) 201-216.

Pittaway JFH, Guasti L(2019). Pathobiology and genetics of adrenocortical carcinoma. Journal of Molecular Endocrinology vol. 62, (2) R105-R119.

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N et al.(2019). Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society vol. 3, (1) 201-221.

Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF(2018). MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation. FASEB Journal vol. 32, (11) 6186-6196.

Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP et al.(2018). HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast with Other GnRH Deficiency Genes. Journal of Clinical Endocrinology and Metabolism vol. 103, (9) 3420-3429.

Guasti L, New SE, Hadjidemetriou I, Palmiero M, Ferretti P(2018). Plasticity of human adipose-derived stem cells - relevance to tissue repair. Int J Dev Biol vol. 62, (6-7-8) 431-439.

Balyura M, Gelfgat E, Steenblock C, Androutsellis-Theotokis A, Ruiz-Babot G, Guasti L, Werdermann M, Ludwig B et al.(2018). Expression of progenitor markers is associated with the functionality of a bioartificial adrenal cortex. PLoS One vol. 13, (3) e0194643-e0194643.

Howard SR, Guasti L, Poliandri A, David A, Cabrera CP, Barnes MR, Wehkalampi K, O'Rahilly S et al.(2018). Contributions of function-Altering variants in genes implicated in pubertal timing and body mass for self-limited delayed puberty. Journal of Clinical Endocrinology and Metabolism vol. 103, (2) 649-659.

Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U et al.(2018). Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Cell Reports vol. 22, (5) 1236-1249.

Mancini A, Howard SR, Cabrera CP, Barnes MR, Heger S, Guasti L, Ojeda S, Dunkel L (2018). EAP1 Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter That Leads to Self-Limited Delayed Puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 90, 20-20.

Howard S, Oleari R, Mancini A, Poliandri A, Saengkaew T, Guasti L, Cariboni A, Dunkel L (2018). Role of GnRH Neuronal Migration and Development in Self-Limited Delayed Puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 90, 68-68.

Katugampola H, King PJ, Chatterjee S, Meso M, Duncan AJ, Achermann JC, Guasti L, Ghataore L et al.(2017). Kisspeptin is a novel regulator of human fetal adrenocortical development and function – a finding with important implications for the human feto-placental unit. The Journal of Clinical Endocrinology & Metabolism

Poliandri A, Miller D, Howard S, Nobles M, Ruiz-Babot G, Harmer S, Tinker A, McKay T et al.(2017). Generation of kisspeptin-responsive GnRH neurons from human pluripotent stem cells. Molecular and Cellular Endocrinology vol. 447, 12-22.

Tufton N, Roncaroli F, Hadjidemetriou I, Dang MN, Dénes J, Guasti L, Thom M, Powell M et al.(2017). Pituitary Carcinoma in a Patient with an SDHB Mutation. Endocr Pathol vol. 28, (4) 320-325.

METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E, Hadjidemetriou I(2017). Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. Journal of Clinical Investigation

Roncaroli F, Tufton N, Hadjidemetriou I, Dang MD, Guasti L, Powell M, Baldeweg E, Fersht N et al. (2017). Pituitary carcinoma in a patient with germline Succinate Dehydrogenase B mutation. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. Conference: 118th Meeting of the British-Neuropathological-Society vol. 43, 46-46.

Howard SR, Andre V, Guasti L, Cabrera CP, Barnes MR, Cariboni A, Dunkel L (2017). DISCOVERY OF MUTATIONS IN MULTIPLE GENES CONTROLLING GNRH NEURONAL MIGRATION AND DEVELOPMENT IN PATIENTS WITH SELF-LIMITED DELAYED PUBERTY. HORMONE RESEARCH IN PAEDIATRICS. vol. 88, 59-59.

Mistry JN, Ruiz-Babot G, Zaman F, Savendahl L, Guasti L, Dunkel L (2017). MECHANISMS OF FIBROBLAST GROWTH FACTOR 21 (FGF21) MEDIATED GROWTH HORMONE RESISTANCE IN HUMAN GROWTH PLATE IN CHRONIC CHILDHOOD CONDITIONS. HORMONE RESEARCH IN PAEDIATRICS. vol. 88, 4-4.

GUASTI L(2016). Towards reconstruction of epithelialized cartilages from autologous adipose tissue-derived stem cells. Journal of Tissue Engineering and Regenerative Medicine

METHERELL LA (2016). Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome. Conference: Society for Endocrinology BES 2016 (Brighton)

Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L et al.(2016). Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol. Journal of EndocrinologyJOE-16-0057-JOE-16-0057.

HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al.(2016). IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. EMBO Molecular Medicine vol. 8, (6) 626-42.

Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. (2016). Role of IGSF10 mutations in self-limited delayed puberty. LANCET. vol. 387, 14-14.

Mancini A, Howard SR, Ruiz-Babot G, Cabrera CP, Barnes MR, Guasti L, Dunkel L (2016). LGR4 and EAP1 Mutations are Implicated in the Phenotype of Self-limited Delayed Puberty. HORMONE RESEARCH IN PAEDIATRICS. vol. 86, 58-58.

Mistry J, Ruiz-Babot G, Guasti L, Dunkel L (2016). The Mechanistic Role of Fibroblast Growth Factor 21 (FGF21) in Growth Hormone Resistance Secondary to Chronic Childhood Conditions. HORMONE RESEARCH IN PAEDIATRICS. vol. 86, 362-362.

Ruiz-Babot G, Hadjidemetriou I, King PJ, Guasti L(2015). New directions for the treatment of adrenal insufficiency. Frontiers in Endocrinology vol. 6, (MAY)

Guasti L, Silvennoinen S, Bulstrode NW, Ferretti P, Sankilampi U, Dunkel L(2014). Elevated FGF21 leads to attenuated postnatal linear growth in preterm infants through GH resistance in chondrocytes. J Clin Endocrinol Metab vol. 99, (11) E2198-E2206.

Guasti L, Vagaska B, Bulstrode NW, Seifalian AM, Ferretti P(2014). Chondrogenic differentiation of adipose tissue-derived stem cells within nanocaged POSS-PCU scaffolds: a new tool for nanomedicine. Nanomedicine vol. 10, (2) 279-289.

Guasti L, Cavlan D, Cogger K, Banu Z, Shakur A, Latif S, King PJ(2013). Dlk1 upregulates Gli1 expression in male rat adrenal capsule cells through the activation of β1 integrin and ERK1-2. Endocrinology vol. 154, (12) 4675-4684.

Guasti L, Candy Sze WC, McKay T, Grose R, King PJ(2013). FGF signalling through Fgfr2 isoform IIIb regulates adrenal cortex development. Molecular and Cellular Endocrinology vol. 371, (1-2) 182-188.

Guasti L, Candy Sze WC, McKay T, Grose R, King PJ(2013). FGF signalling through Fgfr2 isoform IIIb regulates adrenal cortex development. Mol Cell Endocrinol vol. 371, (1-2) 182-188.

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.(2013). Familial glucocorticoid deficiency: New genes and mechanisms. Molecular and Cellular Endocrinology vol. 371, (1-2) 195-200.

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.(2013). Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol vol. 371, (1-2) 195-200.

Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L et al.(2013). Adrenocortical development, maintenance, and disease. Curr Top Dev Biol vol. 106, 239-312.

Kowalczyk J, Meimaridou E, Guasti L, Lei XG, Clark AJL, Metherell LA (2012). A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency. FREE RADICAL BIOLOGY AND MEDICINE. vol. 53, S220-S221.

Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP et al.(2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet vol. 44, (7) 740-742.

Guasti L, Prasongchean W, Kleftouris G, Mukherjee S, Thrasher A, Bulstrode N, Ferretti P(2012). High plasticity of pediatric adipose-derived stem cells: too much for selective skeletogenic differentiation?. Stem Cells Trans Med vol. 1, (5) Article sctm.2012-0009, 384-395.

Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL et al.(2012). MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. JOURNAL OF CLINICAL INVESTIGATION vol. 122, (3) 814-820.

Cooray SN, Guasti L, Clark AJL(2011). The E3 ubiquitin ligase Mahogunin ubiquitinates the melanocortin 2 receptor. Endocrinology vol. 152, (11) 4224-4231.

Gorrigan RJ, Guasti L, King P, Clark AJ, Chan LF(2011). Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland. J Mol Endocrinol vol. 46, (3) 227-232.

Guasti L, Paul A, Laufer E, King P(2011). Localization of Sonic hedgehog secreting and receiving cells in the developing and adult rat adrenal cortex. Mol Cell Endocrinol vol. 336, (1-2) 117-122.

Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G et al.(2010). Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat vol. 31, (8) 950-960.

Guasti L, Richardson D, Jhaveri M, Eldeeb K, Barrett D, Elphick MR, Alexander SPH, Kendall D et al.(2009). Minocycline treatment inhibits microglial activation and alters spinal levels of endocannabinoids in a rat model of neuropathic pain. Mol Pain vol. 5,

Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M et al.(2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A vol. 106, (15) 6146-6151.

Pessia M, Servettini I, Panichi R, Guasti L, Grassi S, Arcangeli A, Wanke E, Pettorossi VE(2008). ERG voltage-gated K⁺ channels regulate excitability and discharge dynamics of the medial vestibular nucleus neurones. Journal of Physiology vol. 586, (20) 4877-4890.

King PJ, Guasti L, Laufer E(2008). Hedgehog signalling in endocrine development and disease. J ENDOCRINOL vol. 198, (3) 439-450.

Guasti L, Crociani O, Redaelli E, Pillozzi S, Polvani S, Masselli M, Mello T, Galli A et al.(2008). Identification of a posttranslational mechanism for the regulation of hERG1 K+ channel expression and hERG1 current density in tumor cells. Mol Cell Biol vol. 28, (16) 5043-5060.

Furlan F, Taccola G, Grandolfo M, Guasti L, Arcangeli A, Nistri A, Ballerini L(2007). ERG conductance expression modulates the excitability of ventral horn GABAergic interneurons that control rhythmic oscillations in the developing mouse spinal cord. Journal of Neuroscience vol. 27, (4) 919-928.

Restano R, Korolkova Y, Diochot S, Gurrola G, Guasti L, Possani L, Lazdunski E, Arcangeli A et al.(2006). Species diversity and peptide toxin blocking selectively of ERG subfamily K+ channels in the central nervous system. Mol Pharm vol. 69, (5) 1673-83.

Guasti L, Cilia E, Crociani O, Hofmann G, Polvani S, Becchetti A, Wanke E, Tempia F et al.(2005). Expression pattern of the ether-a-go-go-related (ERG) family proteins in the adult mouse central nervous system: evidence for coassembly of different subunits. J Comp Neurol vol. 491, (2) 157-174.

Cherubini A, Hofmann G, Pillozzi S, Guasti L, Crociani O, Cilia E, Di Stefano P, Degani S et al.(2005). Human ether-a-go-go-related gene 1 channels are physically linked to beta1 integrins and modulate adhesion-dependent signaling. Mol Biol Cell vol. 16, (6) 2972-2983.

Furlan* F, Guasti* L, Avossa D, Becchetti A, Cilia E, Ballerini L, Arcangeli A(2005). Interneurons transiently express the ERG K+ channels during development of mouse spinal networks in vitro. Neuroscience vol. 135, (4) 1179-1192.

Arcangeli A, Becchetti A, Cherubini A, Crociani O, Defilippi P, Guasti L, Hofmann G, Pillozzi S et al.(2004). Physical and functional interaction between integrins and hERG potassium channels. Biochemical Society Transactions vol. 32, (5) 826-827.

Arcangeli A, Becchetti A, Cherubini A, Crociani O, Defilippi P, Guasti L, Hofmann G, Pillozzi S et al.(2004). Physical and functional interaction between integrins and hERG potassium channels. Biochem Soc Trans vol. 32, (Pt 5) 826-827.

Lastraioli* E, Guasti* L, Crociani O, Polvani S, Hofmann G, Witchel H, Bencini L, Calistri M et al.(2004). herg1 gene and HERG1 protein are overexpressed in colorectal cancers and regulate cell invasion of tumor cells. Cancer Res vol. 64, (2) 606-611.

Crociani O, Guasti L, Balzi M, Becchetti A, Wanke E, Olivotto M, Wymore RS, Arcangeli A(2003). Cell cycle-dependent expression of HERG1 and HERG1B isoforms in tumor cells. J Biol Chem vol. 278, (5) 2947-2955.

Gullo F, Ales E, Rosati B, Lecchi M, Masi A, Guasti L, Cano-Abad MF, Arcangeli A et al.(2003). ERG K+ channel blockade enhances firing and epinephrine secretion in rat chromaffin cells: the missing link to LQT2-related sudden death?. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 17, (2) 330-332.

Pillozzi S, Brizzi MF, Balzi M, Crociani O, Cherubini A, Guasti L, Bartolozzi B, Becchetti A et al.(2002). HERG potassium channels are constitutively expressed in primary human acute myeloid leukemias and regulate cell proliferation of normal and leukemic hemopoietic progenitors. Leukemia vol. 16, (9) 1791-1798.

Cherubini A, Pillozzi S, Hofmann G, Crociani O, Guasti L, Lastraioli E, Polvani S, Masi A et al.(2002). HERG K⁺ channels and β1 integrins interact through the assembly of a macromolecular complex. Annals of the New York Academy of Sciences vol. 973, 559-561.

Hofmann G, Bernabei PA, Crociani O, Cherubini A, Guasti L, Pillozzi S, Lastraioli E, Polvani S et al.(2001). HERG K⁺ Channels Activation during β<inf>1</inf> Integrin-mediated Adhesion to Fibronectin Induces an Up-regulation of αvβ<inf>3</inf> Integrin in the Preosteoclastic Leukemia Cell Line FLG 29.1. Journal of Biological Chemistry vol. 276, (7) 4923-4931.

Hofmann G, Bernabei PA, Crociani O, Cherubini A, Guasti L, Lastraioli E, Polvani S, Bartolozzi B et al.(2001). HERG K channels activation during β1 integrin-mediated adhesion to fibronectin induces an up regulation of αvβ3 integrin in the preosteoclastic leukemia cell line. J Biol Chem4923-31.