Michael J Boland
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Explore the profile of Michael J Boland including associated specialties, affiliations and a list of published articles.
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28
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745
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Recent Articles
1.
Lai D, Sosicka P, Williams D, Bowyer M, Ressler A, Kohrt S, et al.
bioRxiv
. 2025 Jan;
PMID: 39763953
encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have...
2.
Felix A, Wilson T, Randell R, Marotta N, Uchida K, Boland M, et al.
bioRxiv
. 2024 Sep;
PMID: 39229131
Heterozygous variants in and lead to distinct neurodevelopmental disorders caused by haploinsufficient levels of post-synaptic SYNGAP1 and pre-synaptic STXBP1, which are critical for normal synaptic function. While several gene-targeted therapeutic...
3.
Marotta N, Boland M, Prosser B
Curr Probl Pediatr Adolesc Health Care
. 2024 Mar;
54(8):101576.
PMID: 38472035
Gene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently focused on the development of therapeutics for STXBP1 and...
4.
Dugger S, Dhindsa R, Sampaio G, Ressler A, Rafikian E, Petri S, et al.
PLoS Genet
. 2023 Oct;
19(10):e1010952.
PMID: 37782669
Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for...
5.
Colombo S, Reddy H, Petri S, Williams D, Shalomov B, Dhindsa R, et al.
Front Cell Neurosci
. 2023 Jun;
17:1175895.
PMID: 37275776
mutations in , encoding the G subunit of G proteins, cause a neurodevelopmental disorder with global developmental delay and epilepsy, encephalopathy. Here, we show that mice carrying a pathogenic mutation,...
6.
Ressler A, Sampaio G, Dugger S, Sapir T, Krizay D, Boland M, et al.
iScience
. 2023 Jan;
26(1):105797.
PMID: 36594023
Generating effective therapies for neurodevelopmental disorders has remained elusive. An emerging drug discovery approach for neurodevelopmental disorders is to characterize transcriptome-wide dysregulation in an appropriate model system and screen therapeutics...
7.
Zhang A, Sokolova I, Domissy A, Davis J, Rao L, Utami K, et al.
Stem Cells Transl Med
. 2022 May;
11(6):613-629.
PMID: 35556144
Fragile X Syndrome (FXS), the leading monogenic cause of intellectual disability and autism spectrum disorder, is caused by expansion of a CGG trinucleotide repeat in the 5'-UTR of the Fragile...
8.
Lebedeva I, Wagner M, Sahdeo S, Lu Y, Anyanwu-Ofili A, Harms M, et al.
Cell Death Dis
. 2021 Aug;
12(8):770.
PMID: 34354042
Rare monogenic disorders often share molecular etiologies involved in the pathogenesis of common diseases. Congenital disorders of glycosylation (CDG) and deglycosylation (CDDG) are rare pediatric disorders with symptoms that range...
9.
Shore A, Colombo S, Tobin W, Petri S, Cullen E, Dominguez S, et al.
Cell Rep
. 2020 Oct;
33(4):108303.
PMID: 33113364
Gain-of-function (GOF) variants in K channels cause severe childhood epilepsies, but there are no mechanisms to explain how increased K currents lead to network hyperexcitability. Here, we introduce a human...
10.
Amador A, Bostick C, Olson H, Peters J, Camp C, Krizay D, et al.
Brain
. 2020 Jun;
143(7):2039-2057.
PMID: 32577763
NMDA receptors play crucial roles in excitatory synaptic transmission. Rare variants in GRIN2A encoding the GluN2A subunit are associated with a spectrum of disorders, ranging from mild speech and language...