Karen Ling
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Explore the profile of Karen Ling including associated specialties, affiliations and a list of published articles.
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22
Citations
351
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Recent Articles
1.
Nguyen T, Miramontes R, Chillon-Marinas C, Maimon R, Vazquez-Sanchez S, Lau A, et al.
Nat Neurosci
. 2025 Jan;
28(2):280-292.
PMID: 39762660
Huntington's disease (HD) is caused by a CAG repeat expansion in the HTT gene, leading to altered gene expression. However, the mechanisms leading to disrupted RNA processing in HD remain...
2.
Guo X, Prajapati R, Chun J, Byun I, Gebis K, Wang Y, et al.
bioRxiv
. 2024 Sep;
PMID: 39314471
Protein misfolding and aggregation are cardinal features of neurodegenerative disease (NDD) and they contribute to pathophysiology by both loss-of-function (LOF) and gain-of-function (GOF) mechanisms. This is well exemplified by TDP-43...
3.
Yang S, Niou Z, Enriquez A, LaMar J, Huang J, Ling K, et al.
Mol Neurodegener
. 2024 Jan;
19(1):13.
PMID: 38282024
Background: Bioenergetic maladaptations and axonopathy are often found in the early stages of neurodegeneration. Nicotinamide adenine dinucleotide (NAD), an essential cofactor for energy metabolism, is mainly synthesized by Nicotinamide mononucleotide...
4.
Lopez-Erauskin J, Bravo-Hernandez M, Presa M, Baughn M, Melamed Z, Beccari M, et al.
Nat Neurosci
. 2023 Nov;
27(1):34-47.
PMID: 37996528
The mRNA transcript of the human STMN2 gene, encoding for stathmin-2 protein (also called SCG10), is profoundly impacted by TAR DNA-binding protein 43 (TDP-43) loss of function. The latter is...
5.
Aggarwal G, Banerjee S, Jones S, Benchaar Y, Belanger J, Sevigny M, et al.
J Biol Chem
. 2023 Nov;
299(12):105475.
PMID: 37981208
Heterozygous GRN (progranulin) mutations cause frontotemporal dementia (FTD) due to haploinsufficiency, and increasing progranulin levels is a major therapeutic goal. Several microRNAs, including miR-29b, negatively regulate progranulin protein levels. Antisense...
6.
Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles J, Deitch B, et al.
Nat Commun
. 2023 Oct;
14(1):6547.
PMID: 37848409
PACS1 syndrome is a neurodevelopmental disorder (NDD) caused by a recurrent de novo missense mutation in PACS1 (p.Arg203Trp (PACS1)). The mechanism by which PACS1 causes PACS1 syndrome is unknown, and...
7.
Yang S, Niou Z, Enriquez A, LaMar J, Huang J, Ling K, et al.
Res Sq
. 2023 Jun;
PMID: 37292715
Background: Bioenergetic maladaptations and axonopathy are often found in the early stages of neurodegeneration. Nicotinamide adenine dinucleotide (NAD), an essential cofactor for energy metabolism, is mainly synthesized by Nicotinamide mononucleotide...
8.
Luan W, Wright A, Brown-Wright H, Le S, San Gil R, Madrid San Martin L, et al.
Mol Psychiatry
. 2023 Apr;
28(6):2445-2461.
PMID: 37012334
TAR DNA binding protein 43 (TDP-43) pathology is a key feature of over 95% of amyotrophic lateral sclerosis (ALS) and nearly half of frontotemporal dementia (FTD) cases. The pathogenic mechanisms...
9.
Liu P, Chen W, Jiang H, Huang H, Liu L, Fang F, et al.
Mol Ther Nucleic Acids
. 2023 Mar;
32:13-27.
PMID: 36950280
Optic neuropathy is a group of optic nerve (ON) diseases with progressive degeneration of ON and retinal ganglion cells (RGCs). The lack of neuroprotective treatments is a central challenge for...
10.
Baughn M, Melamed Z, Lopez-Erauskin J, Beccari M, Ling K, Zuberi A, et al.
Science
. 2023 Mar;
379(6637):1140-1149.
PMID: 36927019
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 mislocalization results in cryptic splicing and polyadenylation of...