Paul C Marcogliese
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Explore the profile of Paul C Marcogliese including associated specialties, affiliations and a list of published articles.
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32
Citations
730
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Recent Articles
11.
Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld J, Severino M, et al.
Cerebellum
. 2022 Feb;
22(2):206-222.
PMID: 35218524
Cerebellar hypoplasia and dysplasia encompass a group of clinically and genetically heterogeneous disorders frequently associated with neurodevelopmental impairment. The Neuron Navigator 2 (NAV2) gene (MIM: 607,026) encodes a member of...
12.
Marcogliese P, Dutta D, Sinha Ray S, Dang N, Zuo Z, Wang Y, et al.
Sci Adv
. 2022 Jan;
8(3):eabl5613.
PMID: 35044823
De novo truncations in () lead to severe childhood-onset neurodegenerative disorders. To determine how loss of causes neural dysfunction, we examined its function in and zebrafish. Overexpression of either or...
13.
Moulton M, Barish S, Ralhan I, Chang J, Goodman L, Harland J, et al.
Proc Natl Acad Sci U S A
. 2021 Dec;
118(52).
PMID: 34949639
A growing list of Alzheimer's disease (AD) genetic risk factors is being identified, but the contribution of each variant to disease mechanism remains largely unknown. We have previously shown that...
14.
Salazar J, Yang S, Lin Y, Li-Kroeger D, Marcogliese P, Deal S, et al.
PLoS Genet
. 2021 Dec;
17(12):e1009962.
PMID: 34905536
TM2 domain containing (TM2D) proteins are conserved in metazoans and encoded by three separate genes in each model organism species that has been sequenced. Rare variants in TM2D3 are associated...
15.
Rossetti L, Bekheirnia M, Lewis A, Mefford H, Golden-Grant K, Tarczy-Hornoch K, et al.
Mol Genet Genomic Med
. 2020 Dec;
9(1):e1542.
PMID: 33350591
Background: CTNNB1 (MIM 116806) encodes beta-catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTNNB1...
16.
Ravenscroft T, Janssens J, Lee P, Tepe B, Marcogliese P, Makhzami S, et al.
J Neurosci
. 2020 Sep;
40(42):7999-8024.
PMID: 32928889
In multipolar vertebrate neurons, action potentials (APs) initiate close to the soma, at the axonal initial segment. Invertebrate neurons are typically unipolar with dendrites integrating directly into the axon. Where...
17.
Dutta D, Briere L, Kanca O, Marcogliese P, Walker M, High F, et al.
Hum Mol Genet
. 2020 May;
29(9):1568-1579.
PMID: 32356556
The translocase of outer mitochondrial membrane (TOMM) complex is the entry gate for virtually all mitochondrial proteins and is essential to build the mitochondrial proteome. TOMM70 is a receptor that...
18.
Chung H, Mao X, Wang H, Park Y, Marcogliese P, Rosenfeld J, et al.
Am J Hum Genet
. 2020 Apr;
106(5):717-725.
PMID: 32330417
We identified three unrelated individuals with de novo missense variants in CDK19, encoding a cyclin-dependent kinase protein family member that predominantly regulates gene transcription. These individuals presented with hypotonia, global...
19.
Chung H, Wangler M, Marcogliese P, Jo J, Ravenscroft T, Zuo Z, et al.
Neuron
. 2020 Mar;
106(4):589-606.e6.
PMID: 32169171
ACOX1 (acyl-CoA oxidase 1) encodes the first and rate-limiting enzyme of the very-long-chain fatty acid (VLCFA) β-oxidation pathway in peroxisomes and leads to HO production. Unexpectedly, Drosophila (d) ACOX1 is...
20.
Guo H, Bettella E, Marcogliese P, Zhao R, Andrews J, Nowakowski T, et al.
Nat Commun
. 2019 Oct;
10(1):4679.
PMID: 31616000
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations...