U.S. Department of Health and Human Services

Metabolic Diseases Branch

Lee S. Weinstein, M.D., Chief

​Publications

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

Publications
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; 158 (2017 Jan 27; 158; 5):931-944. [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]
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]
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]
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]
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]
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]
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]
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]
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]
Weinstein LS, Xie T, Zhang QH, Chen M. Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology. Pharmacol Ther. 2007 Aug; 115 (2007 Aug; 2; 115):271-91. [Full Text/Abstract]
Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab. 2007 Mar; 92 (92; 3; 2007 Mar):1073-9. [Full Text/Abstract]
Xie T, Plagge A, Gavrilova O, Pack S, Jou W, Lai EW, Frontera M, Kelsey G, Weinstein LS. The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice. J Biol Chem. 2006 Jul 14; 281 (2006 Jul 14; 28; 281):18989-99. [Full Text/Abstract]
Chen M, Gavrilova O, Zhao WQ, Nguyen A, Lorenzo J, Shen L, Nackers L, Pack S, Jou W, Weinstein LS. Increased glucose tolerance and reduced adiposity in the absence of fasting hypoglycemia in mice with liver-specific Gs alpha deficiency. J Clin Invest. 2005 Nov; 115 (2005 Nov; 115; 11):3217-27. [Full Text/Abstract]
Marx SJ, Simonds WF. Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocr Rev. 2005 Aug; 26 (5; 26; 2005 Aug):615-61. [Full Text/Abstract]
Sakamoto A, Chen M, Nakamura T, Xie T, Karsenty G, Weinstein LS. Deficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical bone. J Biol Chem. 2005 Jun 3; 280 (280; 22; 2005 Jun 3):21369-75. [Full Text/Abstract]
Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, Nackers LM, Lorenzo J, Shen L, Weinstein LS. Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci U S A. 2005 May 17; 102 (2005 May 17; 20; 102):7386-91. [Full Text/Abstract]
Liu J, Chen M, Deng C, Bourc'his D, Nealon JG, Erlichman B, Bestor TH, Weinstein LS. Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit. Proc Natl Acad Sci U S A. 2005 Apr 12; 102 (102; 2005 Apr 12; 15):5513-8. [Full Text/Abstract]
Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS. Chondrocyte-specific knockout of the G protein G(s)alpha leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res. 2005 Apr; 20 (20; 2005 Apr; 4):663-71. [Full Text/Abstract]
Liu J, Nealon JG, Weinstein LS. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet. 2005 Jan 1; 14 (14; 2005 Jan 1; 1):95-102. [Full Text/Abstract]
Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung UI. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci U S A. 2004 Oct 12; 101 (2004 Oct 12; 101; 41):14794-9. [Full Text/Abstract]
Simonds WF, Woodard GE, Zhang JH. Assays of nuclear localization of R7/Gbeta5 complexes. Methods Enzymol. 2004; 390 (390; 2004):210-23. [Full Text/Abstract]
Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2004 Jan; 89 (2004 Jan; 1; 89):96-102. [Full Text/Abstract]
Weinstein LS, Simonds WF. HRPT2, a marker of parathyroid cancer. N Engl J Med. 2003 Oct 30; 349 (2003 Oct 30; 349; 18):1691-2. [Full Text/Abstract]
Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab. 2003 Sep; 88 (2003 Sep; 9; 88):4336-41. [Full Text/Abstract]