Aamir R Zuberi
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Explore the profile of Aamir R Zuberi including associated specialties, affiliations and a list of published articles.
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18
Citations
191
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Recent Articles
1.
Abreo T, Thompson E, Madabushi A, Park K, Soh H, Varghese N, et al.
Elife
. 2025 Jan;
13.
PMID: 39761077
variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity,...
2.
Eller M, Zuberi A, Fu X, Burgess S, Lutz C, Bailey R
bioRxiv
. 2024 Jun;
PMID: 38915588
ECHS1 Deficiency (ECHS1D) is a rare and devastating pediatric disease that currently has no defined treatments. This disorder results from missense loss-of-function mutations in the gene that result in severe...
3.
Sullivan J, Bagnell A, Alevy J, Avila E, Mihaljevic L, Saavedra-Rivera P, et al.
Sci Transl Med
. 2024 May;
16(748):eadk1358.
PMID: 38776392
Blood-CNS barrier disruption is a hallmark of numerous neurological disorders, yet whether barrier breakdown is sufficient to trigger neurodegenerative disease remains unresolved. Therapeutic strategies to mitigate barrier hyperpermeability are also...
4.
Abreo T, Thompson E, Madabushi A, Soh H, Varghese N, Vanoye C, et al.
bioRxiv
. 2024 Jan;
PMID: 38260608
variants in children with neurodevelopmental impairment are difficult to assess due to their heterogeneity and unclear pathogenic mechanisms. We describe a child with neonatal-onset epilepsy, developmental impairment of intermediate severity,...
5.
Cheemala A, Kimble A, Tyburski J, Leclair N, Zuberi A, Murphy M, et al.
bioRxiv
. 2024 Jan;
PMID: 38168388
Loss of nuclear TDP-43 occurs in a wide range of neurodegenerative diseases, and specific mutations in the gene that encodes the protein are linked to familial Frontal Temporal Lobar Dementia...
6.
Dominick M, Houchins N, Venugopal V, Zuberi A, Lutz C, Meechooveet B, et al.
Biochem Biophys Res Commun
. 2023 Jan;
645:164-172.
PMID: 36689813
Matrin 3 is a nuclear matrix protein that has many roles in RNA processing including splicing and transport of mRNA. Many missense mutations in the Matrin 3 gene (MATR3) have...
7.
Fil D, Conley R, Zuberi A, Lutz C, Gemelli T, Napierala M, et al.
Neurobiol Dis
. 2023 Jan;
177:105996.
PMID: 36638893
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeats in intron...
8.
Talsness D, Owings K, Coelho E, Mercenne G, Pleinis J, Partha R, et al.
Elife
. 2020 Dec;
9.
PMID: 33315011
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears....
9.
Zhou X, Brooks M, Jiang P, Koga S, Zuberi A, Baker M, et al.
EMBO Rep
. 2020 Aug;
21(10):e50197.
PMID: 32761777
Progranulin (PGRN) and transmembrane protein 106B (TMEM106B) are important lysosomal proteins implicated in frontotemporal lobar degeneration (FTLD) and other neurodegenerative disorders. Loss-of-function mutations in progranulin (GRN) are a common cause...
10.
Fil D, Chacko B, Conley R, Ouyang X, Zhang J, Darley-Usmar V, et al.
Dis Model Mech
. 2020 Jun;
13(7).
PMID: 32586831
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeat...