Carl Ernst
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Explore the profile of Carl Ernst including associated specialties, affiliations and a list of published articles.
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74
Citations
3062
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Recent Articles
1.
Antonyan L, Zhang X, Ni A, Peng H, Alsuwaidi S, Fleming P, et al.
Hum Mol Genet
. 2025 Jan;
PMID: 39825586
Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant...
2.
Lork A, Rabasco S, Ernst C, du Toit A, Rizzoli S, Phan N
Chem Sci
. 2024 Mar;
15(9):3311-3322.
PMID: 38425528
Protein turnover is a critical process for accurate cellular function, in which damaged proteins in the cells are gradually replaced with newly synthesized ones. Many previous studies on cellular protein...
3.
Berlin E, Lork A, Bornecrantz M, Ernst C, Phan N
Talanta
. 2024 Feb;
272:125762.
PMID: 38394748
Membrane lipids have been known to influence multiple signalling and cellular processes. Dysregulation of lipids at the neuronal membrane is connected to a significant alteration of the brain function and...
4.
Hettige N, Fleming P, Semenak A, Zhang X, Peng H, Hagel M, et al.
Hum Mol Genet
. 2023 May;
32(15):2511-2522.
PMID: 37216650
FOXG1 is a critical transcription factor in human brain where loss-of-function mutations cause a severe neurodevelopmental disorder, while increased FOXG1 expression is frequently observed in glioblastoma. FOXG1 is an inhibitor...
5.
Rabasco S, Lork A, Berlin E, Nguyen T, Ernst C, Locker N, et al.
Int J Mol Sci
. 2023 Feb;
24(3).
PMID: 36768868
Stress granules (SGs) are stress-induced biomolecular condensates which originate primarily from inactivated RNA translation machinery and translation initiation factors. SG formation is an important defensive mechanism for cell survival, while...
6.
Antonyan L, Ernst C
Front Neurosci
. 2022 Jun;
16:813430.
PMID: 35685777
Mutations in () cause two different clinically distinguishable diseases called Schinzel-Giedion syndrome (SGS) or deficiency syndrome (SDD). Both disorders are disorders of protein dosage, where SGS is caused by decreased...
7.
Jefri M, Zhang X, Stumpf P, Zhang L, Peng H, Hettige N, et al.
Hum Mol Genet
. 2022 May;
31(21):3715-3728.
PMID: 35640156
Kabuki syndrome is frequently caused by loss-of-function mutations in one allele of histone 3 lysine 4 (H3K4) methyltransferase KMT2D and is associated with problems in neurological, immunological and skeletal system...
8.
Ni A, Ernst C
Front Cell Neurosci
. 2022 Mar;
16:826193.
PMID: 35308118
There are 400-500 thousand dopaminergic cells within each side of the human substantia nigra pars compacta (SNpc) making them a minuscule portion of total brain mass. These tiny clusters of...
9.
Hettige N, Peng H, Wu H, Zhang X, Yerko V, Zhang Y, et al.
Stem Cell Reports
. 2022 Feb;
17(3):475-488.
PMID: 35148845
Heterozygous loss-of-function mutations in Forkhead box G1 (FOXG1), a uniquely brain-expressed gene, cause microcephaly, seizures, and severe intellectual disability, whereas increased FOXG1 expression is frequently observed in glioblastoma. To investigate...
10.
Vaillancourt K, Chen G, Fiori L, Maussion G, Yerko V, Theroux J, et al.
iScience
. 2021 Oct;
24(10):103169.
PMID: 34693223
Cocaine dependence is a chronic, relapsing disorder caused by lasting changes in the brain. Animal studies have identified cocaine-related alterations in striatal DNA methylation; however, it is unclear how methylation...