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Le Thi Hao

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Articles 10
Citations 251
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Recent Articles
1.
Timberlake A, Hemal K, Gustafson J, Hao L, Valenzuela I, Slavotinek A, et al.
J Neurosurg Pediatr . 2024 Jun; 34(3):246-251. PMID: 38905707
Objective: Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic...
2.
Zhao S, Mekbib K, van der Ent M, Allington G, Prendergast A, Chau J, et al.
Nat Commun . 2023 Nov; 14(1):7452. PMID: 37978175
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family...
3.
Robert S, Reeves B, Kiziltug E, Duy P, Karimy J, Mansuri M, et al.
Cell . 2023 Feb; 186(4):764-785.e21. PMID: 36803604
The choroid plexus (ChP) is the blood-cerebrospinal fluid (CSF) barrier and the primary source of CSF. Acquired hydrocephalus, caused by brain infection or hemorrhage, lacks drug treatments due to obscure...
4.
Duy P, Weise S, Marini C, Li X, Liang D, Dahl P, et al.
Nat Neurosci . 2022 Apr; 25(4):458-473. PMID: 35379995
Hydrocephalus, characterized by cerebral ventricular dilatation, is routinely attributed to primary defects in cerebrospinal fluid (CSF) homeostasis. This fosters CSF shunting as the leading reason for brain surgery in children...
5.
Riboldi G, Faravelli I, Kuwajima T, Delestree N, Dermentzaki G, de Planell-Saguer M, et al.
Nat Commun . 2021 Aug; 12(1):5040. PMID: 34413305
SMN is a ubiquitously expressed protein and is essential for life. SMN deficiency causes the neurodegenerative disease spinal muscular atrophy (SMA), the leading genetic cause of infant mortality. SMN interacts...
6.
Li H, Custer S, Gilson T, Hao L, Beattie C, Androphy E
Hum Mol Genet . 2015 Oct; 24(25):7295-307. PMID: 26464491
Spinal muscular atrophy (SMA), a heritable neurodegenerative disease, results from insufficient levels of the survival motor neuron (SMN) protein. α-COP binds to SMN, linking the COPI vesicular transport pathway to...
7.
Hao L, Duy P, Jontes J, Beattie C
Hum Mol Genet . 2014 Sep; 24(2):346-60. PMID: 25180019
Low levels of the survival motor neuron protein (SMN) cause the disease spinal muscular atrophy. A primary characteristic of this disease is motoneuron dysfunction and paralysis. Understanding why motoneurons are...
8.
Lyon A, Pineda R, Hao L, Kudryashova E, Kudryashov D, Beattie C
Hum Mol Genet . 2013 Nov; 23(8):1990-2004. PMID: 24271012
The actin-binding and bundling protein, plastin 3 (PLS3), was identified as a protective modifier of spinal muscular atrophy (SMA) in some patient populations and as a disease modifier in animal...
9.
Hao L, Fuller H, Lam L, Le T, Burghes A, Morris G
BMC Cell Biol . 2007 Jul; 8:28. PMID: 17640370
Background: Spinal muscular atrophy is caused by reduced levels of the survival of motor neurons (SMN) protein. SMN is found in large complexes with Sm proteins and at least eight...
10.
Sharma A, Lambrechts A, Hao L, Le T, Sewry C, Ampe C, et al.
Exp Cell Res . 2005 Jun; 309(1):185-97. PMID: 15975577
Spinal muscular atrophy (SMA) is caused by reduced levels of SMN (survival of motor neurons protein) and consequent loss of motor neurons. SMN is involved in snRNP transport and nuclear...