U.S. Department of Health and Human Services

Metabolic Diseases Branch

Lee S. Weinstein, M.D., Chief


A selection of recent and significant publications can be viewed below.

Pandey M, Zhang JH, Mishra SK, Adikaram PR, Harris B, Kahler JF, Loshakov A, Sholevar R, Genis A, Kittock C, Kabat J, Ganesan S, Neubig RR, Hoon MA, Simonds WF. A central role for R7bp in the regulation of itch sensation. Pain. 2017 Jan 27; (2017 Jan 27). [Full Text/Abstract]
Chen M, Shrestha YB, Podyma B, Cui Z, Naglieri B, Sun H, Ho T, Wilson EA, Li YQ, Gavrilova O, Weinstein LS. Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations. J Clin Invest. 2016 Dec 19; 127 (2016 Dec 19; 127; 2):500-510. [Full Text/Abstract]
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet. 2016 Oct 13; 99 (2016 Oct 13; 99; 5):1034-1044. [Full Text/Abstract]
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AA, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. Am J Hum Genet. 2016 Sep 1; 99 (2016 Sep 1; 99; 3):786. [Full Text/Abstract]
Li Y, Simonds WF. Endocrine neoplasms in familial syndromes of hyperparathyroidism. Endocr Relat Cancer. 2016 May 20; 23 (6; 23; 2016 May 20):R229-47. [Full Text/Abstract]
Zhang JH, Adikaram P, Pandey M, Genis A, Simonds WF. Optimization of genome editing through CRISPR-Cas9 engineering. Bioengineered. 2016 Apr; 7 (2016 Apr; 7; 3):166-74. [Full Text/Abstract]
Li YQ, Shrestha YB, Chen M, Chanturiya T, Gavrilova O, Weinstein LS. Gsα deficiency in adipose tissue improves glucose metabolism and insulin sensitivity without an effect on body weight. Proc Natl Acad Sci U S A. 2015 Dec 28; 113 (113; 2; 2015 Dec 28):446-51. [Full Text/Abstract]
Berger A, Kablan A, Yao C, Ho T, Podyma B, Weinstein LS, Chen M. Gsα Deficiency in the Ventromedial Hypothalamus Enhances Leptin Sensitivity and Improves Glucose Homeostasis in Mice on a High-Fat Diet. Endocrinology. 2015 Dec 15; 157 (157; 2; 2015 Dec 15):600-10. [Full Text/Abstract]
Zhu Y, He Q, Aydin C, Rubera I, Tauc M, Chen M, Weinstein LS, Marshansky V, Jüppner H, Bastepe M. Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D. Endocrinology. 2015 Dec 15; 157 (157; 2; 2015 Dec 15):497-507. [Full Text/Abstract]
Li YQ, Shrestha Y, Pandey M, Chen M, Kablan A, Gavrilova O, Offermanns S, Weinstein LS. G(q/11)α and G(s)α mediate distinct physiological responses to central melanocortins. J Clin Invest. 2015 Nov 23; 126 (126; 2015 Nov 23; 1):40-9. [Full Text/Abstract]
Nilubol N, Weinstein LS, Simonds WF, Jensen RT, Marx SJ, Kebebew E. Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure. Ann Surg Oncol. 2015 Nov 5; 23 (23; 2; 2015 Nov 5):416-23. [Full Text/Abstract]
Desai SS, Kharade SS, Parekh VI, Iyer S, Agarwal SK. Pro-oncogenic Roles of HLXB9 Protein in Insulinoma Cells through Interaction with Nono Protein and Down-regulation of the c-Met Inhibitor Cblb (Casitas B-lineage Lymphoma b). J Biol Chem. 2015 Sep 4; 290 (42; 290; 2015 Sep 4):25595-608. [Full Text/Abstract]
Gara SK, Jia L, Merino MJ, Agarwal SK, Zhang L, Cam M, Patel D, Kebebew E. Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. N Engl J Med. 2015 Jul 30; 373 (2015 Jul 30; 5; 373):448-55. [Full Text/Abstract]
Iglesias-Bartolome R, Torres D, Marone R, Feng X, Martin D, Simaan M, Chen M, Weinstein LS, Taylor SS, Molinolo AA, Gutkind JS. Inactivation of a Gαs-PKA tumour suppressor pathway in skin stem cells initiates basal-cell carcinogenesis. Nat Cell Biol. 2015 May 11; 17 (6; 2015 May 11; 17):793-803. [Full Text/Abstract]
Modali SD, Parekh VI, Kebebew E, Agarwal SK. Epigenetic Regulation of the lncRNA MEG3 and Its Target c-MET in Pancreatic Neuroendocrine Tumors. Mol Endocrinol. 2015 Jan 7; 29 (2015 Jan 7; 2; 29):224-237. [Full Text/Abstract]
Parekh VI, Modali SD, Desai SS, Agarwal SK. Consequence of Menin Deficiency in Mouse Adipocytes Derived by In Vitro Differentiation. Int J Endocrinol. 2015; 2015 (2015):149826. [Full Text/Abstract]
Mehta A, Patel D, Rosenberg A, Boufraqech M, Ellis RJ, Nilubol N, Quezado MM, Marx SJ, Simonds WF, Kebebew E. Hyperparathyroidism-jaw tumor syndrome: Results of operative management. Surgery. 2014 Dec; 156 (2014 Dec; 156; 6):1315-25. [Full Text/Abstract]
He X, Zhang L, Chen Y, Remke M, Shih D, Lu F, Wang H, Deng Y, Yu Y, Xia Y, Wu X, Ramaswamy V, Hu T, Wang F, Zhou W, Burns DK, Kim SH, Kool M, Pfister SM, Weinstein LS, Pomeroy SL, Gilbertson RJ, Rubin JB, Hou Y, Wechsler-Reya R, Taylor MD, Lu QR. The G protein α subunit Gαs is a tumor suppressor in Sonic hedgehog-driven medulloblastoma. Nat Med. 2014 Aug 24; 20 (20; 2014 Aug 24; 9):1035-42. [Full Text/Abstract]
Wang Z, Fan M, Candas D, Zhang TQ, Qin L, Eldridge A, Wachsmann-Hogiu S, Ahmed KM, Chromy BA, Nantajit D, Duru N, He F, Chen M, Finkel T, Weinstein LS, Li JJ. Cyclin B1/Cdk1 Coordinates Mitochondrial Respiration for Cell-Cycle G2/M Progression. Dev Cell. 2014 Apr 28; 29 (2; 2014 Apr 28; 29):217-32. [Full Text/Abstract]
Turan S, Fernandez-Rebollo E, Aydin C, Zoto T, Reyes M, Bounoutas G, Chen M, Weinstein LS, Erben RG, Marshansky V, Bastepe M. Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone-resistance due to heterozygous Gαs disruption. J Bone Miner Res. 2014 Mar; 29 (2014 Mar; 3; 29):749-60. [Full Text/Abstract]
Desai SS, Modali SD, Parekh VI, Kebebew E, Agarwal SK. GSK-3β protein phosphorylates and stabilizes HLXB9 protein in insulinoma cells to form a targetable mechanism of controlling insulinoma cell proliferation. J Biol Chem. 2014 Feb 28; 289 (2014 Feb 28; 289; 9):5386-98. [Full Text/Abstract]
Agarwal SK. Exploring the tumors of multiple endocrine neoplasia type 1 in mouse models for basic and preclinical studies. Int J Endocr Oncol. 2014; 1 (2; 2014; 1):153-161. [Full Text/Abstract]
Muniyappa R, Warren MA, Zhao X, Aney SC, Courville AB, Chen KY, Brychta RJ, Germain-Lee EL, Weinstein LS, Skarulis MC. Reduced Insulin Sensitivity in Adults with Pseudohypoparathyroidism Type 1a. J Clin Endocrinol Metab. 2013 Nov; 98 (98; 2013 Nov; 11):E1796-801. [Full Text/Abstract]
Costa-Guda J, Soong CP, Parekh VI, Agarwal SK, Arnold A. Germline and Somatic Mutations in Cyclin-Dependent Kinase Inhibitor Genes CDKN1A, CDKN2B, and CDKN2C in Sporadic Parathyroid Adenomas. Horm Cancer. 2013 Oct; 4 (2013 Oct; 4; 5):301-7. [Full Text/Abstract]
Shi K, Parekh VI, Roy S, Desai SS, Agarwal SK. The embryonic transcription factor Hlxb9 is a menin interacting partner that controls pancreatic β-cell proliferation and the expression of insulin regulators. Endocr Relat Cancer. 2013 Feb; 20 (20; 2013 Feb; 1):111-22. [Full Text/Abstract]
Agarwal SK. Multiple endocrine neoplasia type 1. Front Horm Res. 2013; 41 (41; 2013):1-15. [Full Text/Abstract]
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab. 2012 Sep; 97 (2012 Sep; 97; 9):3025-30. [Full Text/Abstract]
Chen M, Berger A, Kablan A, Zhang J, Gavrilova O, Weinstein LS. Gsα deficiency in the paraventricular nucleus of the hypothalamus partially contributes to obesity associated with Gsα mutations. Endocrinology. 2012 Sep; 153 (153; 2012 Sep; 9):4256-65. [Full Text/Abstract]
Simonds WF, Varghese S, Marx SJ, Nieman LK. Cushing's syndrome in multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2012 Mar; 76 (76; 2012 Mar; 3):379-86. [Full Text/Abstract]
Zhang JH, Seigneur EM, Pandey M, Loshakov A, Dagur PK, Connelly PS, Koo L, Panicker LM, Simonds WF. The EIF4EBP3 translational repressor is a marker of CDC73 tumor suppressor haploinsufficiency in a parathyroid cancer syndrome. Cell Death Dis. 2012 Feb 2; 3 (2012 Feb 2; 3):266. [Full Text/Abstract]
Agarwal SK, Jothi R. Genome-wide characterization of menin-dependent H3K4me3 reveals a specific role for menin in the regulation of genes implicated in MEN1-like tumors. PLoS One. 2012; 7 (2012; 7; 5):e37952. [Full Text/Abstract]
Zhang JH, Pandey M, Seigneur EM, Panicker LM, Koo L, Schwartz OM, Chen W, Chen CK, Simonds WF. Knockout of G protein β5 impairs brain development and causes multiple neurologic abnormalities in mice. J Neurochem. 2011 Nov; 119 (2011 Nov; 119; 3):544-54. [Full Text/Abstract]
Chen M, Mema E, Kelleher J, Nemechek N, Berger A, Wang J, Xie T, Gavrilova O, Drucker DJ, Weinstein LS. Absence of the glucagon-like peptide-1 receptor does not affect the metabolic phenotype of mice with liver-specific G(s)α deficiency. Endocrinology. 2011 Sep; 152 (2011 Sep; 152; 9):3343-50. [Full Text/Abstract]
Chen M, Nemechek NM, Mema E, Wang J, Weinstein LS. Effects of deficiency of the G protein Gsα on energy and glucose homeostasis. Eur J Pharmacol. 2011 Jun 11; 660 (660; 2011 Jun 11; 1):119-24. [Full Text/Abstract]
Wang Y, Ozawa A, Zaman S, Prasad NB, Chandrasekharappa SC, Agarwal SK, Marx SJ. The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization. Cancer Res. 2011 Jan 15; 71 (71; 2; 2011 Jan 15):371-82. [Full Text/Abstract]
Sharretts JM, Kebebew E, Simonds WF. Parathyroid cancer. Semin Oncol. 2010 Dec; 37 (6; 2010 Dec; 37):580-90. [Full Text/Abstract]
Xie T, Chen M, Weinstein LS. Pancreas-specific Gsalpha deficiency has divergent effects on pancreatic alpha- and beta-cell proliferation. J Endocrinol. 2010 Sep; 206 (206; 2010 Sep; 3):261-9. [Full Text/Abstract]
Sharretts JM, Simonds WF. Clinical and molecular genetics of parathyroid neoplasms. Best Pract Res Clin Endocrinol Metab. 2010 Jun; 24 (2010 Jun; 3; 24):491-502. [Full Text/Abstract]
Panicker LM, Zhang JH, Posokhova E, Gastinger MJ, Martemyanov KA, Simonds WF. Nuclear localization of the G protein beta 5/R7-regulator of G protein signaling protein complex is dependent on R7 binding protein. J Neurochem. 2010 Jun; 113 (113; 2010 Jun; 5):1101-12. [Full Text/Abstract]
Panicker LM, Zhang JH, Dagur PK, Gastinger MJ, Simonds WF. Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. Endocr Relat Cancer. 2010 Jun; 17 (2010 Jun; 2; 17):513-24. [Full Text/Abstract]
Chen M, Chen H, Nguyen A, Gupta D, Wang J, Lai EW, Pacak K, Gavrilova O, Quon MJ, Weinstein LS. G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis. Cell Metab. 2010 Apr 7; 11 (2010 Apr 7; 4; 11):320-30. [Full Text/Abstract]
Chen M, Wang J, Dickerson KE, Kelleher J, Xie T, Gupta D, Lai EW, Pacak K, Gavrilova O, Weinstein LS. Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation. Cell Metab. 2009 Jun; 9 (6; 9; 2009 Jun):548-55. [Full Text/Abstract]
Adams GB, Alley IR, Chung UI, Chabner KT, Jeanson NT, Lo Celso C, Marsters ES, Chen M, Weinstein LS, Lin CP, Kronenberg HM, Scadden DT. Haematopoietic stem cells depend on Galpha(s)-mediated signalling to engraft bone marrow. Nature. 2009 May 7; 459 (2009 May 7; 459; 7243):103-7. [Full Text/Abstract]
Agarwal SK, Mateo CM, Marx SJ. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab. 2009 May; 94 (94; 5; 2009 May):1826-34. [Full Text/Abstract]
Agarwal SK, Ozawa A, Mateo CM, Marx SJ. The MEN1 gene and pituitary tumours. Horm Res. 2009 Apr; 71 Suppl 2 (2009 Apr; 71 Suppl 2):131-8. [Full Text/Abstract]
Chen M, Feng HZ, Gupta D, Kelleher J, Dickerson KE, Wang J, Hunt D, Jou W, Gavrilova O, Jin JP, Weinstein LS. G(s)alpha deficiency in skeletal muscle leads to reduced muscle mass, fiber-type switching, and glucose intolerance without insulin resistance or deficiency. Am J Physiol Cell Physiol. 2009 Apr; 296 (2009 Apr; 296; 4):C930-40. [Full Text/Abstract]
Xie T, Chen M, Gavrilova O, Lai EW, Liu J, Weinstein LS. Severe obesity and insulin resistance due to deletion of the maternal Gsalpha allele is reversed by paternal deletion of the Gsalpha imprint control region. Endocrinology. 2008 May; 149 (149; 2008 May; 5):2443-50. [Full Text/Abstract]
Shen HC, Rosen JE, Yang LM, Savage SA, Burns AL, Mateo CM, Agarwal SK, Chandrasekharappa SC, Spiegel AM, Collins FS, Marx SJ, Libutti SK. Parathyroid tumor development involves deregulation of homeobox genes. Endocr Relat Cancer. 2008 Mar; 15 (2008 Mar; 15; 1):267-75. [Full Text/Abstract]
Xie T, Chen M, Zhang QH, Ma Z, Weinstein LS. Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes. Proc Natl Acad Sci U S A. 2007 Dec 4; 104 (104; 49; 2007 Dec 4):19601-6. [Full Text/Abstract]
Ji Y, Prasad NB, Novotny EA, Kaur S, Elkahloun A, Chen Y, Zhang RZ, Chu ML, Agarwal SK, Marx SJ, Collins FS, Chandrasekharappa SC. Mouse embryo fibroblasts lacking the tumor suppressor menin show altered expression of extracellular matrix protein genes. Mol Cancer Res. 2007 Oct; 5 (2007 Oct; 10; 5):1041-51. [Full Text/Abstract]