Ashleigh E Schaffer
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Explore the profile of Ashleigh E Schaffer including associated specialties, affiliations and a list of published articles.
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26
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1369
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Recent Articles
1.
Caputo A, Schaffer A
Curr Opin Genet Dev
. 2025 Feb;
91:102322.
PMID: 39923316
Intellectual disability (ID) is a broad diagnostic category that encompasses individuals with impaired cognitive ability. While these disorders have heterogeneous causes, recent developments in next-generation sequencing (NGS) are revealing the...
2.
Wang Y, Seibert H, Ahn L, Schaffer A, Mu T
Pharmacol Res
. 2024 Aug;
208:107356.
PMID: 39216838
Recent advances in genetic diagnosis identified variants in genes encoding GABA receptors as causative for genetic epilepsy. Here, we selected eight disease-associated variants in the α1 subunit of GABA receptors...
3.
Ellwanger K, Brill J, de Boer E, Efthymiou S, Elgersma Y, Icmat M, et al.
Lab Anim (NY)
. 2024 Jun;
53(7):161-165.
PMID: 38914824
No abstract available.
4.
Werren E, LaForce G, Srivastava A, Perillo D, Li S, Johnson K, et al.
Nat Commun
. 2024 Feb;
15(1):1640.
PMID: 38388531
THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export complex (TREX) tetramer formation, which is composed of four...
5.
Chen D, Philippidou P, Brenha B, Schaffer A, Miranda H
bioRxiv
. 2024 Jan;
PMID: 38260655
Neuromuscular junctions (NMJs) are specialized synapses that mediate communication between motor neurons and skeletal muscles and are essential for movement. The degeneration of this system can lead to symptoms observed...
6.
Zhang P, Benske T, Ahn L, Schaffer A, Paton J, Paton A, et al.
Acta Pharmacol Sin
. 2023 Oct;
45(2):282-297.
PMID: 37803141
The GRIN genes encoding N-methyl-D-aspartate receptor (NMDAR) subunits are remarkably intolerant to variation. Many pathogenic NMDAR variants result in their protein misfolding, inefficient assembly, reduced surface expression, and impaired function...
7.
Wang Y, Seibert H, Ahn L, Schaffer A, Mu T
bioRxiv
. 2023 May;
PMID: 37131660
Recent advances in genetic diagnosis identified variants in genes encoding GABA receptors as causative for genetic epilepsy. Here, we selected eight disease-associated variants in the subunit of GABA receptors causing...
8.
LaForce G, Philippidou P, Schaffer A
Wiley Interdiscip Rev RNA
. 2022 Sep;
14(3):e1762.
PMID: 36123820
Balanced mRNA isoform diversity and abundance are spatially and temporally regulated throughout cellular differentiation. The proportion of expressed isoforms contributes to cell type specification and determines key properties of the...
9.
Chen C, Guan B, Alzahrani M, Gao Z, Gao L, Bracey S, et al.
Nat Commun
. 2022 Aug;
13(1):4621.
PMID: 35941159
Pancreatic β-cells are prone to endoplasmic reticulum (ER) stress due to their role in insulin secretion. They require sustainable and efficient adaptive stress responses to cope with this stress. Whether...
10.
LaForce G, Farr J, Liu J, Akesson C, Gumus E, Pinkard O, et al.
Neuron
. 2022 Feb;
110(8):1340-1357.e7.
PMID: 35139363
Tight regulation of mRNA isoform expression is essential for neuronal development, maintenance, and function; however, the repertoire of proteins that govern isoform composition and abundance remains incomplete. Here, we show...