Elena Perenthaler
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Explore the profile of Elena Perenthaler including associated specialties, affiliations and a list of published articles.
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13
Citations
499
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Recent Articles
1.
Signoria I, Zwartkruis M, Geerlofs L, Perenthaler E, Faller K, James R, et al.
Mol Ther Methods Clin Dev
. 2024 Dec;
32(4):101379.
PMID: 39655308
The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam)...
2.
Sharma G, Paganin M, Lauria F, Perenthaler E, Viero G
Biochem Soc Trans
. 2024 Feb;
52(1):465-479.
PMID: 38391004
The underlying cause of Spinal Muscular Atrophy (SMA) is in the reduction of survival motor neuron (SMN) protein levels due to mutations in the SMN1 gene. The specific effects of...
3.
Yousefi S, Deng R, Lanko K, Salsench E, Nikoncuk A, der Linde H, et al.
Genome Med
. 2021 Oct;
13(1):162.
PMID: 34663447
Background: Non-coding regulatory elements (NCREs), such as enhancers, play a crucial role in gene regulation, and genetic aberrations in NCREs can lead to human disease, including brain disorders. The human...
4.
Sanderson L, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, et al.
Brain
. 2021 Mar;
144(3):769-780.
PMID: 33764426
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular...
5.
Barish S, Barakat T, Michel B, Mashtalir N, Phillips J, Valencia A, et al.
Am J Hum Genet
. 2020 Nov;
107(6):1096-1112.
PMID: 33232675
SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders characterized by developmental disability, coarse facial features, and fifth digit/nail hypoplasia that are caused by pathogenic variants in genes that encode...
6.
Verheul T, van Hijfte L, Perenthaler E, Barakat T
Front Cell Dev Biol
. 2020 Oct;
8:592164.
PMID: 33102493
First described in 1991, Yin Yang 1 (YY1) is a transcription factor that is ubiquitously expressed throughout mammalian cells. It regulates both transcriptional activation and repression, in a seemingly context-dependent...
7.
Lauria F, Bernabo P, Tebaldi T, Groen E, Perenthaler E, Maniscalco F, et al.
Nat Cell Biol
. 2020 Sep;
22(10):1239-1251.
PMID: 32958857
The contribution of ribosome heterogeneity and ribosome-associated proteins to the molecular control of proteomes in health and disease remains unclear. Here, we demonstrate that survival motor neuron (SMN) protein-the loss...
8.
Perenthaler E, Nikoncuk A, Yousefi S, Berdowski W, Alsagob M, capo I, et al.
Acta Neuropathol
. 2019 Dec;
139(3):415-442.
PMID: 31820119
Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting...
9.
Perenthaler E, Yousefi S, Niggl E, Barakat T
Front Cell Neurosci
. 2019 Aug;
13:352.
PMID: 31417368
The development of the human cerebral cortex is a complex and dynamic process, in which neural stem cell proliferation, neuronal migration, and post-migratory neuronal organization need to occur in a...
10.
Clamer M, Tebaldi T, Lauria F, Bernabo P, Gomez-Biagi R, Marchioretto M, et al.
Cell Rep
. 2018 Oct;
25(4):1097-1108.e5.
PMID: 30355487
Ribosome profiling, or Ribo-seq, is based on large-scale sequencing of RNA fragments protected from nuclease digestion by ribosomes. Thanks to its unique ability to provide positional information about ribosomes flowing...