Steven J Gray
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Explore the profile of Steven J Gray including associated specialties, affiliations and a list of published articles.
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87
Citations
2816
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Recent Articles
1.
Gumusgoz E, Kasiri S, Youssef I, Verma M, Chopra R, Villarreal Acha D, et al.
Gene Ther
. 2025 Feb;
PMID: 39893321
Because children have little temporal exposure to environment and aging, most pediatric neurological diseases are inherent, i.e. genetic. Since postnatal neurons and astrocytes are mostly non-replicating, gene therapy and genome...
2.
Presa M, Bailey R, Ray S, Bailey L, Tata S, Murphy T, et al.
Commun Med (Lond)
. 2025 Jan;
5(1):29.
PMID: 39870870
Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease....
3.
Kayani S, Daescu V, Dahshi H, Messahel S, Woleban K, Minassian B, et al.
Am J Med Genet A
. 2024 Dec;
197(4):e63947.
PMID: 39632678
Leigh syndrome, a severe neurological disorder is commonly caused by homozygous or bi-allelic pathogenic variants in the SURF1 gene. SURF1 deficiency leads to dysfunction of Cytochrome C Oxidase (COX) activity,...
4.
Zaric V, Kang H, Rybalchenko V, Zigman J, Gray S, Butler R
Genes (Basel)
. 2024 Nov;
15(11).
PMID: 39596566
Background/objectives: Euchromatic histone lysine methyltransferase 2 (EHMT2, also known as G9a) is a mammalian histone methyltransferase that catalyzes the dimethylation of histone 3 lysine 9 (H3K9). On human chromosome 15,...
5.
Guo W, Rioux M, Shaffo F, Hu Y, Yu Z, Xing C, et al.
J Clin Invest
. 2024 Nov;
135(3).
PMID: 39589822
The solute carrier family 6 member 1 (SLC6A1) gene encodes the γ-aminobutyric acid (GABA) transporter GAT-1, the deficiency of which is associated with infantile encephalopathy with intellectual disability. We designed...
6.
Dowling J, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, et al.
Nat Med
. 2024 Jun;
30(7):1882-1887.
PMID: 38942994
There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment. We present a road map for individualized...
7.
Bharucha-Goebel D, Todd J, Saade D, Norato G, Jain M, Lehky T, et al.
N Engl J Med
. 2024 Mar;
390(12):1092-1104.
PMID: 38507752
Background: Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in , the gene encoding gigaxonin. Methods: We conducted an intrathecal dose-escalation...
8.
Sadhu C, Lyons C, Oh J, Jagadeeswaran I, Gray S, Sinnett S
Genes (Basel)
. 2024 Jan;
15(1).
PMID: 38254921
Inactivating mutations and the duplication of methyl-CpG binding protein 2 (MeCP2), respectively, mediate Rett syndrome (RTT) and duplication syndrome. These disorders underscore the conceptual dose-dependent risk posed by gene therapy...
9.
Ryckman A, Deschenes N, Quinville B, Osmon K, Mitchell M, Chen Z, et al.
Mol Ther Methods Clin Dev
. 2024 Jan;
32(1):101168.
PMID: 38205442
The pathological accumulation of GM2 ganglioside associated with Tay-Sachs disease (TSD) and Sandhoff disease (SD) occurs in individuals who possess mutant forms of the heterodimer β-hexosaminidase A (Hex A) because...
10.
Gumusgoz E, Kasiri S, Verma M, Wu J, Villarreal Acha D, Marriam U, et al.
Gene Ther
. 2023 Dec;
31(5-6):234-241.
PMID: 38135787
EPM1 is the most common form of Progressive Myoclonus Epilepsy characterized by late-childhood onset, ever-worsening and disabling myoclonus, seizures, ataxia, psychiatric disease, and shortened lifespan. EPM1 is caused by expansions...