The Eugene McDermott Center for Human Growth and Development

Research output

Research output per year 2017 2020 2021 2022 2023 2023

• 26 Article
• 1 Comment/debate

Research output per year

Research output per year

Search results

• Article

  A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy

  Ni, M., Afroze, B., Xing, C., Pan, C., Shao, Y., Cai, L., Cantarel, B. L., Pei, J., Grishin, N. V., Hewson, S., Knight, D., Mahida, S., Michel, D., Tarnopolsky, M., Poduri, A., Rotenberg, A., Sondheimer, N. & DeBerardinis, R. J., May 2021, In: Genetics in Medicine. 23, 5, p. 900-908 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Epilepsy 100%
  • Peptide Hydrolases 99%
  • Pediatrics 76%
  • Fibroblasts 44%
  • Immunoblotting 39%
  11 Scopus citations

• Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure

  Scheuerle, A. E., Ni, M., Ahmad, A. A., Timmons, C. F., Rakheja, D., Gordon, E. E. & Boothe, M., Sep 2023, In: American Journal of Medical Genetics, Part A. 191, 9, p. 2324-2328 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cholestasis 100%
  • Renal Insufficiency 77%
  • Ciliopathies 32%
  • Proteins 32%
  • cohesins 31%
  1 Scopus citations

• Clinico-pathological and molecular spectrum of biotinidase deficiency- experience from a lower middle-income country

  Ahmed, S., Ni, M., DeBerardinis, R. J., Habib, A., Akbar, F. & Afroze, B., 2021, In: Clinical Laboratory. 67, 6, p. 1429-1439 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Biotinidase Deficiency 100%
  • Organic Acid 58%
  • Biotinidase 51%
  • Income 48%
  • Enzyme Activity 48%
  3 Scopus citations

• Compartmentalized metabolism supports midgestation mammalian development

  Solmonson, A., Faubert, B., Gu, W., Rao, A., Cowdin, M. A., Menendez-Montes, I., Kelekar, S., Rogers, T. J., Pan, C., Guevara, G., Tarangelo, A., Zacharias, L. G., Martin-Sandoval, M. S., Do, D., Pachnis, P., Dumesnil, D., Mathews, T. P., Tasdogan, A., Pham, A., Cai, L., & 6 othersZhao, Z., Ni, M., Cleaver, O., Sadek, H. A., Morrison, S. J. & DeBerardinis, R. J., Apr 14 2022, In: Nature. 604, 7905, p. 349-353 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Embryonic Structures 100%
  • Citric Acid Cycle 90%
  • Placenta 68%
  • Isotopes 52%
  • Tricarboxylic Acids 41%
  44 Scopus citations

• Comprehensive isotopomer analysis of glutamate and aspartate in small tissue samples

  Cai, F., Bezwada, D., Cai, L., Mahar, R., Wu, Z., Chang, M. C., Pachnis, P., Yang, C., Kelekar, S., Gu, W., Brooks, B., Ko, B., Vu, H. S., Mathews, T. P., Zacharias, L. G., Martin-Sandoval, M., Do, D., Oaxaca, K. C., Jin, E. S., Margulis, V., & 3 othersMalloy, C. R., Merritt, M. E. & DeBerardinis, R. J., Oct 3 2023, In: Cell Metabolism. 35, 10, p. 1830-1843.e5

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Aspartic Acid 100%
  • Mass Spectrometry 86%
  • Glutamic Acid 84%
  • Magnetic Resonance Spectroscopy 64%
  • Isotope Labeling 56%

• Disabling Uncompetitive Inhibition of Oncogenic IDH Mutations Drives Acquired Resistance

  Lyu, J., Liu, Y., Gong, L., Chen, M., Madanat, Y. F., Zhang, Y., Cai, F., Gu, Z., Cao, H., Kaphle, P., Kim, Y. J., Kalkan, F. N., Stephens, H., Dickerson, K. E., Ni, M., Chen, W., Patel, P., Mims, A. S., Borate, U., Burd, A., & 8 othersCai, S. F., Yin, C. C., You, M. J., Chung, S. S., Collins, R. H., DeBerardinis, R. J., Liu, X. & Xu, J., Jan 9 2023, In: Cancer discovery. 13, 1, p. 170-193 24 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mutation 100%
  • Acute Myeloid Leukemia 73%
  • NADP 55%
  • Leukemia 41%
  • Amino Acids 35%
  5 Scopus citations

• Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan

  Ahmed, S., Akbar, F., Deberardinis, R. J., Ni, M. & Afroze, B., Aug 1 2023, In: Journal of Pediatric Endocrinology and Metabolism. 36, 8, p. 761-771 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Methylenetetrahydrofolate Reductase (NADPH2) 100%
  • Pakistan 87%
  • Molecular Biology 62%
  • Methylenetetrahydrofolate reductase deficiency 19%
  • Betaine 15%

• Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

  Ni, M., Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K., & 3 othersMcNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In: Cell Reports. 27, 5, p. 1376-1386.e6

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Inborn Errors Metabolism 100%
  • 2-Hydroxyglutaricaciduria 93%
  • Metabolomics 85%
  • Genomics 78%
  • Lipoylation 73%
  47 Scopus citations

• Guanosine triphosphate links MYC-dependent metabolic and ribosome programs in small-cell lung cancer

  Huang, F., Huffman, K. E., Wang, Z., Wang, X., Li, K., Cai, F., Yang, C., Cai, L., Shih, T. S., Zacharias, L. G., Chung, A., Yang, Q., Chalishazar, M. D., Ireland, A. S., Stewart, C. A., Cargill, K., Girard, L., Liu, Y., Ni, M., Xu, J., & 8 othersWu, X., Zhu, H., Drapkin, B., Byers, L. A., Oliver, T. G., Gazdar, A. F., Minna, J. D. & DeBerardinis, R. J., Jan 4 2021, In: Journal of Clinical Investigation. 131, 1, e139929.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Inosine Monophosphate 100%
  • Small Cell Lung Carcinoma 83%
  • Guanosine Triphosphate 79%
  • Ribosomes 78%
  • Oxidoreductases 68%
  28 Scopus citations

• High expression of FGD3, a putative regulator of cell morphology and motility, is prognostic of favorable outcome in multiple cancers

  Willis, S., Sun, Y., Abramovitz, M., Fei, T., Young, B., Lin, X., Ni, M., Achua, J., Regan, M. M., Gray, K. P., Gray, R., Wang, V., Long, B., Kammler, R., Sparano, J. A., Williams, C., Goldstein, L. J., Salgado, R., Loi, S., Pruneri, G., & 3 othersViale, G., Brown, M. & Leyland-Jones, B., 2017, In: JCO Precision Oncology. 2017, 1, p. 1-13 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Aarskog Syndrome 100%
  • Cell Movement 44%
  • Breast Neoplasms 34%
  • Estrogen Receptors 25%
  • Neoplasms 17%
  9 Scopus citations

• Interrogation of enhancer function by enhancer-targeting CRISPR epigenetic editing

  Li, K., Liu, Y., Cao, H., Zhang, Y., Gu, Z., Liu, X., Yu, A., Kaphle, P., Dickerson, K. E., Ni, M. & Xu, J., Dec 1 2020, In: Nature communications. 11, 1, 485.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • editing 100%
  • Enhancer 81%
  • genes 80%
  • interrogation 79%
  • Clustered Regularly Interspaced Short Palindromic Repeats 79%
  119 Scopus citations

• L-2-hydroxyglutaric aciduria – review of literature and case series

  Ahmed, S., Siddiqui, A., DeBerardinis, R. J., Ni, M., Lai, W. G., Cai, F., Vu, H. S. & Afroze, B., Apr 1 2023, In: Annals of Medicine and Surgery. 85, 4, p. 712-717 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • 2-Hydroxyglutaricaciduria 100%
  • alpha-hydroxyglutarate 22%
  • Pakistan 15%
  • Basal Ganglia 14%
  • Siblings 12%
  1 Scopus citations

• Loss of EZH2 reprograms BCAA metabolism to drive leukemic transformation

  Gu, Z., Liu, Y., Cai, F., Patrick, M., Zmajkovic, J., Cao, H., Zhang, Y., Tasdogan, A., Chen, M., Qi, L., Liu, X., Li, K., Lyu, J., Dickerson, K. E., Chen, W., Ni, M., Merritt, M. E., Morrison, S. J., Skoda, R. C., Deberardinis, R. J., & 1 othersXu, J., 2019, In: Cancer discovery. 9, 9, p. 1228-1247 20 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Branched Chain Amino Acids 100%
  • Epigenomics 67%
  • Leukemia 26%
  • Neoplasms 24%
  • Myeloid Leukemia 13%
  103 Scopus citations

• Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2

  Ni, M., Black, L. F., Pan, C., Vu, H., Pei, J., Ko, B., Cai, L., Solmonson, A., Yang, C., Nugent, K. M., Grishin, N. V., Xing, C., Roeder, E. & DeBerardinis, R. J., Jul 2021, In: Journal of Inherited Metabolic Disease. 44, 4, p. 949-960 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Glutamate-tRNA Ligase 100%
  • Mitochondrial Diseases 67%
  • Metabolomics 35%
  • Fibroblasts 23%
  • Genetic Association Studies 22%
  6 Scopus citations

• Metabolomic and transcriptional profiling reveals bioenergetic stress and activation of cell death and inflammatory pathways in vivo after neuronal deletion of NAMPT

  Lundt, S., Zhang, N., Li, J. L., Zhang, Z., Zhang, L., Wang, X., Bao, R., Cai, F., Sun, W., Ge, W. P. & Ding, S., Aug 2021, In: Journal of Cerebral Blood Flow and Metabolism. 41, 8, p. 2116-2131 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Nicotinamide Phosphoribosyltransferase 100%
  • Metabolomics 78%
  • Energy Metabolism 64%
  • Cell Death 53%
  • NAD 41%
  10 Scopus citations

• Metabolon formation regulates branched-chain amino acid oxidation and homeostasis

  Patrick, M. K., Gu, Z., Zhang, G., Wynn, R. M., Kaphle, P., Cao, H., Vu, H., Cai, F., Gao, X., Zhang, Y., Chen, M., Ni, M., Chuang, D. T., DeBerardinis, R. J. & Xu, J., Dec 2022, In: Nature Metabolism. 4, 12, p. 1775-1791 17 p.

  Research output: Contribution to journal › Article › peer-review

  • Branched Chain Amino Acids 100%
  • Homeostasis 56%
  • Keto Acids 32%
  • Isoenzymes 21%
  • branched-chain-amino-acid transaminase 18%
  6 Scopus citations

• Mitochondrial NADP⁺ is essential for proline biosynthesis during cell growth

  Tran, D. H., Kesavan, R., Rion, H., Soflaee, M. H., Solmonson, A., Bezwada, D., Vu, H. S., Cai, F., Phillips, J. A., DeBerardinis, R. J. & Hoxhaj, G., Apr 2021, In: Nature Metabolism. 3, 4, p. 571-585 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • NADP 100%
  • Proline 98%
  • NAD kinase 85%
  • Growth 46%
  • delta-1-pyrroline-5-carboxylate 16%
  48 Scopus citations

• Noncoding variants connect enhancer dysregulation with nuclear receptor signaling in hematopoietic malignancies

  Li, K., Zhang, Y., Liu, X., Liu, Y., Gu, Z., Cao, H., Dickerson, K. E., Chen, M., Chen, W., Shao, Z., Ni, M. & Xu, J., May 2020, In: Cancer discovery. 10, 5, p. 724-745 22 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cytoplasmic and Nuclear Receptors 100%
  • Hematologic Neoplasms 99%
  • Leukemia 63%
  • Neoplasms 25%
  • Clustered Regularly Interspaced Short Palindromic Repeats 22%
  22 Scopus citations

• Novel pathogenic UQCRC2 variants in a female with normal neurodevelopment

  Haidar, L. A., Harris, R. C., Pachnis, P., Chen, H., Gotway, G. K., Ni, M. & DeBerardinis, R. J., 2023, In: Cold Spring Harbor Molecular Case Studies. 9, 4

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Core Protein 100%
  • Oxidoreductases 70%
  • Electron Transport Complex III 43%
  • Hyperammonemia 41%
  • Lactic Acidosis 39%
  1 Scopus citations

• Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy management

  Abou Haidar, L., Pachnis, P., Gotway, G. K., Ni, M., DeBerardinis, R. J. & McNutt, M. C., Nov 2023, In: JIMD Reports. 64, 6, p. 403-409 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • carglumic acid 100%
  • Glutamate Synthase 86%
  • Inborn Urea Cycle Disorder 75%
  • Hyperammonemia 64%
  • Carglumic Acid 55%

• Purine nucleotide depletion prompts cell migration by stimulating the serine synthesis pathway

  Soflaee, M. H., Kesavan, R., Sahu, U., Tasdogan, A., Villa, E., Djabari, Z., Cai, F., Tran, D. H., Vu, H. S., Ali, E. S., Rion, H., O’Hara, B. P., Kelekar, S., Hallett, J. H., Martin, M., Mathews, T. P., Gao, P., Asara, J. M., Manning, B. D., Ben-Sahra, I., & 1 othersHoxhaj, G., Dec 2022, In: Nature communications. 13, 1, 2698.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • purines 100%
  • Purine Nucleotides 95%
  • Purine Nucleotide 94%
  • nucleotides 83%
  • purine 76%
  25 Scopus citations

• Targeting BCAT1 Combined with a-Ketoglutarate Triggers Metabolic Synthetic Lethality in Glioblastoma

  Zhang, B., Peng, H., Zhou, M., Bao, L., Wang, C., Cai, F., Zhang, H., Wang, J. E., Niu, Y., Chen, Y., Wang, Y., Hatanpaa, K. J., Copland, J. A., DeBerardinis, R. J., Wang, Y. & Luo, W., Jul 1 2022, In: Cancer research. 82, 13, p. 2388-2402 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • branched-chain-amino-acid transaminase 100%
  • Synthetic Lethal Mutations 84%
  • Glioblastoma 57%
  • Mechanistic Target of Rapamycin Complex 1 16%
  • Nucleotides 15%
  14 Scopus citations

• Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer

  Lee, H., Cai, F., Kelekar, N., Velupally, N. K. & Kim, J., Jan 1 2022, In: Cells. 11, 1, 176.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hexosamine 100%
  • Biosynthesis 58%
  • Lung Neoplasms 55%
  • fructose-6-phosphate 42%
  • Hexosamines 39%
  10 Scopus citations

• The hexosamine biosynthesis pathway is a targetable liability in KRAS/LKB1 mutant lung cancer

  Kim, J., Lee, H. M., Cai, F., Ko, B., Yang, C., Lieu, E. L., Muhammad, N., Rhyne, S., Li, K., Haloul, M., Gu, W., Faubert, B., Kaushik, A. K., Cai, L., Kasiri, S., Marriam, U., Nham, K., Girard, L., Wang, H., Sun, X., & 4 othersKim, J., Minna, J. D., Unsal-Kacmaz, K. & DeBerardinis, R. J., Dec 2020, In: Nature Metabolism. 2, 12, p. 1401-1412 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hexosamines 100%
  • Lung Neoplasms 56%
  • Non-Small Cell Lung Carcinoma 27%
  • Neoplasms 22%
  • Nitrogen 19%
  70 Scopus citations

• Using arterial–venous analysis to characterize cancer metabolic consumption in patients

  Xiong, N., Gao, X., Zhao, H., Cai, F., Zhang, F. C., Yuan, Y., Liu, W., He, F., Zacharias, L. G., Lin, H., Vu, H. S., Xing, C., Yao, D. X., Chen, F., Luo, B., Sun, W., DeBerardinis, R. J., Xu, H. & Ge, W. P., Dec 1 2020, In: Nature communications. 11, 1, 3169.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • veins 100%
  • cancer 74%
  • Glioma 73%
  • Veins 66%
  • metabolism 65%
  23 Scopus citations

• Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect – First case report from Pakistan and review of literature

  Ahmed, S., DeBerardinis, R. J., Ni, M. & Afroze, B., Dec 2020, In: Annals of Medicine and Surgery. 60, p. 721-727 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Phosphate-Binding Proteins 100%
  • Pyridoxal Phosphate 75%
  • Vitamin B 6 71%
  • Pakistan 64%
  • Epilepsy 47%
  9 Scopus citations