Hyunglok Chung

2024

Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila

Liao, J. Z., Chung, H. L., Shih, C., Wong, K. K. L., Dutta, D., Nil, Z., Burns, C. G., Kanca, O., Park, Y. J., Zuo, Z., Marcogliese, P. C., Sew, K., Bellen, H. J. & Verheyen, E. M., Apr 18 2024, In: Nature Communications. 15, 1, p. 3326 3326.

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

Open Access

1 Scopus citations

2023

The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival

Ma, M., Zhang, X., Zheng, Y., Lu, S., Pan, X., Mao, X., Pan, H., Chung, H. L., Wang, H., Guo, H. & Bellen, H. J., Mar 6 2023, In: Human Molecular Genetics. 32, 6, p. 984-997 14 p.

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

4 Scopus citations

Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation

Chung, H. L., Ye, Q., Park, Y. J., Zuo, Z., Mok, J. W., Kanca, O., Tattikota, S. G., Lu, S., Perrimon, N., Lee, H. K. & Bellen, H. J., May 2 2023, In: Cell Metabolism. 35, 5, p. 855-874.e5

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

23 Scopus citations

2022

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies

Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H. L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., Craiu, D., Davila, C., Helbig, I., Guerrini, R., Lehesjoki, A. E., Marini, C. & Muhle, H. & 14 others, Møller, R. S., Neubauer, B., Pal, D., Sterbova, K., Striano, P., Talvik, T., Von Spiczak, S., Weber, Y., Hoffman-Zacharska, D., Mefford, H., De Jonghe, P., Yamamoto, S., Weckhuysen, S. & Bellen, H. J., May 1 2022, In: Brain. 145, 5, p. 1684-1697 14 p.

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

Open Access

5 Scopus citations

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Chung, H. L., Rump, P., Lu, D., Glassford, M. R., Mok, J. W., Fatih, J., Basal, A., Marcogliese, P. C., Kanca, O., Rapp, M., Fock, J. M., Kamsteeg, E. J., Lupski, J. R., Larson, A., Haninbal, M. C., Bellen, H. & Harel, T., Oct 1 2022, In: Human Molecular Genetics. 31, 19, p. 3231-3244 14 p.

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

12 Scopus citations

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Marcogliese, P. C., Deal, S. L., Andrews, J., Harnish, J. M., Bhavana, V. H., Graves, H. K., Jangam, S., Luo, X., Liu, N., Bei, D., Chao, Y. H., Hull, B., Lee, P. T., Pan, H., Bhadane, P., Huang, M. C., Longley, C. M., Chao, H. T., Chung, H. L. & Haelterman, N. A. & 41 others, Kanca, O., Manivannan, S. N., Rossetti, L. Z., German, R. J., Gerard, A., Schwaibold, E. M. C., Fehr, S., Guerrini, R., Vetro, A., England, E., Murali, C. N., Barakat, T. S., van Dooren, M. F., Wilke, M., van Slegtenhorst, M., Lesca, G., Sabatier, I., Chatron, N., Brownstein, C. A., Madden, J. A., Agrawal, P. B., Keren, B., Courtin, T., Perrin, L., Brugger, M., Roser, T., Leiz, S., Mau-Them, F. T., Delanne, J., Sukarova-Angelovska, E., Trajkova, S., Rosenhahn, E., Strehlow, V., Platzer, K., Keller, R., Pavinato, L., Brusco, A., Rosenfeld, J. A., Marom, R., Wangler, M. F. & Yamamoto, S., Mar 15 2022, In: Cell Reports. 38, 11, 110517.

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

Open Access

22 Scopus citations

Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

Lu, S., Hernan, R., Marcogliese, P. C., Huang, Y., Gertler, T. S., Akcaboy, M., Liu, S., Chung, H. L., Pan, X., Sun, X., Oguz, M. M., Oztoprak, U., de Baaij, J. H. F., Ivanisevic, J., McGinnis, E., Guillen Sacoto, M. J., Chung, W. K. & Bellen, H. J., Apr 7 2022, In: American Journal of Human Genetics. 109, 4, p. 571-586 16 p.

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

Open Access

20 Scopus citations

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

Undiagnosed Diseases Network, Jan 2022, In: Science advances. 8, 3, eabl5613.

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

18 Scopus citations

2021

ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models

Manor, J., Chung, H., Bhagwat, P. K. & Wangler, M. F., Dec 2021, In: Journal of Neuroscience Research. 99, 12, p. 3170-3181 12 p.

Research output: Contribution to journal › Review article › peer-review

12 Scopus citations

Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function

Park, Y. J., Kim, S., Shim, H. P., Park, J. H., Lee, G., Kim, T. Y., Jo, M. C., Kwon, A. Y., Lee, M., Lee, S., Yeo, J., Chung, H. L., Bellen, H. J., Kwon, S. H. & Jeon, S. H., Aug 20 2021, In: iScience. 24, 8, 102899.

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

Open Access

17 Scopus citations

2020

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

Undiagnosed Diseases Network, May 7 2020, In: American Journal of Human Genetics. 106, 5, p. 717-725 9 p.

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

Open Access

28 Scopus citations

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Members of Undiagnosed Diseases Network, May 20 2020, In: Neuron. 106, 4, p. 589-606.e6

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

Open Access

82 Scopus citations

2019

An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

Kanca, O., Zirin, J., Garcia-Marques, J., Knight, S. M., Yang-Zhou, D., Amador, G., Chung, H., Zuo, Z., Ma, L., He, Y., Lin, W. W., Fang, Y., Ge, M., Yamamoto, S., Schulze, K. L., Hu, Y., Spradling, A. C., Mohr, S. E., Perrimon, N. & Bellen, H. J., Nov 2019, In: eLife. 8, e51539.

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

Open Access

91 Scopus citations

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

Ansar, M., Chung, H. L., Al-Otaibi, A., Elagabani, M. N., Ravenscroft, T. A., Paracha, S. A., Scholz, R., Abdel Magid, T., Sarwar, M. T., Shah, S. F., Qaisar, A. A., Makrythanasis, P., Marcogliese, P. C., Kamsteeg, E. J., Falconnet, E., Ranza, E., Santoni, F. A., Aldhalaan, H., Al-Asmari, A. & Faqeih, E. A. & 4 others, Ahmed, J., Kornau, H. C., Bellen, H. J. & Antonarakis, S. E., Nov 7 2019, In: American Journal of Human Genetics. 105, 5, p. 907-920 14 p.

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

Open Access

22 Scopus citations

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

Link, N., Chung, H., Jolly, A., Withers, M., Tepe, B., Arenkiel, B. R., Shah, P. S., Krogan, N. J., Aydin, H., Geckinli, B. B., Tos, T., Isikay, S., Tuysuz, B., Mochida, G. H., Thomas, A. X., Clark, R. D., Mirzaa, G. M., Lupski, J. R. & Bellen, H. J., Dec 16 2019, In: Developmental Cell. 51, 6, p. 713-729.e6

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

Open Access

67 Scopus citations

2018

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Ansar, M., Chung, H. L., Taylor, R. L., Nazir, A., Imtiaz, S., Sarwar, M. T., Manousopoulou, A., Makrythanasis, P., Saeed, S., Falconnet, E., Guipponi, M., Pournaras, C. J., Ansari, M. A., Ranza, E., Santoni, F. A., Ahmed, J., Shah, I., Gul, K., Black, G. C. & Bellen, H. J. & 1 others, Antonarakis, S. E., Oct 4 2018, In: American Journal of Human Genetics. 103, 4, p. 568-578 11 p.

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

Open Access

29 Scopus citations

Erratum: IRF2BPL Is Associated with Neurological Phenotypes (The American Journal of Human Genetics (2018) 103(2) (245–260), (S0002929718302337) (10.1016/j.ajhg.2018.07.006))

Program for Undiagnosed Diseases (UD-PrOZA) & Undiagnosed Diseases Network, Sep 6 2018, In: American Journal of Human Genetics. 103, 3, p. 456 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

16 Scopus citations

IRF2BPL Is Associated with Neurological Phenotypes

Program for Undiagnosed Diseases (UD-PrOZA) & Undiagnosed Diseases Network, Aug 2 2018, In: American Journal of Human Genetics. 103, 2, p. 245-260 16 p.

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

Open Access

73 Scopus citations

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, M., Chung, H., Waryah, Y. M., Makrythanasis, P., Falconnet, E., Rao, A. R., Guipponi, M., Narsani, A. K., Fingerhut, R., Santoni, F. A., Ranza, E., Waryah, A. M., Bellen, H. J. & Antonarakis, S. E., Aug 1 2018, In: Human Molecular Genetics. 27, 15, p. 2703-2711 9 p.

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

Open Access

22 Scopus citations

2016

Drosophila Schip1 Links Expanded and Tao-1 to Regulate Hippo Signaling

Chung, H. L., Augustine, G. J. & Choi, K. W., Mar 7 2016, In: Developmental Cell. 36, 5, p. 511-524 14 p.

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

Open Access

29 Scopus citations

Schip1, a new upstream regulator of Hippo signaling

Chung, H. L. & Choi, K. W., Aug 17 2016, In: Cell Cycle. 15, 16, p. 2097-2098 2 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

4 Scopus citations

Hyunglok Chung, PhD

Research output

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