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Sukhan Kim

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Articles 26
Citations 360
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Recent Articles
1.
Montanucci L, Brunger T, Bhattarai N, Bosselmann C, Kim S, Allen J, et al.
Hum Mol Genet . 2024 Nov; 34(2):128-139. PMID: 39535073
Genetic variants in the genes GRIN1, GRIN2A, GRIN2B, and GRIN2D, which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic and neurodevelopmental disorders, including...
2.
Montanucci L, Brunger T, Bhattarai N, Bosselmann C, Kim S, Allen J, et al.
medRxiv . 2024 May; PMID: 38766179
Genetic variants in genes , , , and , which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic diseases. Missense variants in these...
3.
Xu Y, Song R, Perszyk R, Chen W, Kim S, Park K, et al.
Cell Mol Life Sci . 2024 Mar; 81(1):153. PMID: 38538865
N-methyl-D-aspartate receptors (NMDARs) are members of the glutamate receptor family and participate in excitatory postsynaptic transmission throughout the central nervous system. Genetic variants in GRIN genes encoding NMDAR subunits are...
4.
DErasmo M, Akins N, Ma P, Jing Y, Swanger S, Sharma S, et al.
ACS Chem Neurosci . 2023 Aug; 14(17):3059-3076. PMID: 37566734
Subunit-selective inhibition of -methyl-d-aspartate receptors (NMDARs) is a promising therapeutic strategy for several neurological disorders, including epilepsy, Alzheimer's and Parkinson's disease, depression, and acute brain injury. We previously described the...
5.
Lewis S, Shetty S, Gamble S, Heim J, Zhao N, Stitt G, et al.
Orphanet J Rare Dis . 2023 Aug; 18(1):225. PMID: 37537625
Background: Mutations in the NMDA receptor are known to disrupt glutamatergic signaling crucial for early neurodevelopment, often leading to severe global developmental delay/intellectual disability, epileptic encephalopathy, and cerebral palsy phenotypes....
6.
Myers S, Yuan H, Perszyk R, Zhang J, Kim S, Nocilla K, et al.
Hum Mol Genet . 2023 Jun; 32(19):2857-2871. PMID: 37369021
Advances in sequencing technology have generated a large amount of genetic data from patients with neurological conditions. These data have provided diagnosis of many rare diseases, including a number of...
7.
Xie L, McDaniel M, Perszyk R, Kim S, Cappuccio G, Shapiro K, et al.
Cell Mol Life Sci . 2023 Mar; 80(4):110. PMID: 37000222
The short pre-M1 helix within the S1-M1 linker (also referred to as the pre-M1 linker) between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the NMDA receptor...
8.
Tang W, Beckley J, Zhang J, Song R, Xu Y, Kim S, et al.
Cell Mol Life Sci . 2023 Jan; 80(2):42. PMID: 36645496
N-methyl-D-aspartate receptors (NMDARs) play vital roles in normal brain functions (i.e., learning, memory, and neuronal development) and various neuropathological conditions, such as epilepsy, autism, Parkinson's disease, Alzheimer's disease, and traumatic...
9.
Strehlow V, Rieubland C, Gallati S, Kim S, Myers S, Peterson V, et al.
Epilepsia . 2022 Aug; 63(10):e132-e137. PMID: 35983985
We report on an 8-year-old girl with severe developmental and epileptic encephalopathy due to the compound heterozygous null variants p.(Gln661*) and p.(Leu830Profs*2) in GRIN2A resulting in a knockout of the...
10.
Majgaard J, Skov F, Kim S, Hjortdal V, Boedtkjer D
Physiol Rep . 2022 Aug; 10(16):e15401. PMID: 35980021
Spontaneous action potentials precede phasic contractile activity in human collecting lymphatic vessels. In this study, we investigated the expression of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels in human collecting lymphatics and...