Sergio Padilla-Lopez
Overview
Explore the profile of Sergio Padilla-Lopez including associated specialties, affiliations and a list of published articles.
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Articles
22
Citations
338
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Recent Articles
1.
Alstrup M, Cesca F, Krawczun-Rygmaczewska A, Lopez-Menendez C, Pose-Utrilla J, Castberg F, et al.
Genet Med
. 2024 Jul;
26(11):101219.
PMID: 39033379
Purpose: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising...
2.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, et al.
Eur J Hum Genet
. 2024 Apr;
32(9):1191.
PMID: 38565641
No abstract available.
3.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, et al.
Eur J Hum Genet
. 2024 Feb;
32(9):1144-1149.
PMID: 38355961
Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting...
4.
Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, et al.
Brain
. 2023 Sep;
147(1):311-324.
PMID: 37713627
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system....
5.
Richard E, Bakhtiari S, Marsh A, Kaiyrzhanov R, Wagner M, Shetty S, et al.
Am J Hum Genet
. 2021 Oct;
108(10):2006-2016.
PMID: 34626583
Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 associated with sensorineural hearing loss in 47 individuals...
6.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet
. 2021 Jan;
53(3):412.
PMID: 33432185
No abstract available.
7.
Jin S, Lewis S, Bakhtiari S, Zeng X, Sierant M, Shetty S, et al.
Nat Genet
. 2020 Sep;
52(10):1046-1056.
PMID: 32989326
In addition to commonly associated environmental factors, genomic factors may cause cerebral palsy. We performed whole-exome sequencing of 250 parent-offspring trios, and observed enrichment of damaging de novo mutations in...
8.
Carvill G, Helbig K, Myers C, Scala M, Huether R, Lewis S, et al.
Hum Mutat
. 2020 Mar;
41(7):1263-1279.
PMID: 32196822
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new...
9.
Wagner M, Osborn D, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, et al.
Nat Commun
. 2019 Oct;
10(1):4790.
PMID: 31636353
Alterations of Ca homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate...
10.
Helbig K, Lauerer R, Bahr J, Souza I, Myers C, Uysal B, et al.
Am J Hum Genet
. 2019 Mar;
104(3):562.
PMID: 30849329
No abstract available.