PubRank

Susan A Slaugenhaupt

Author PubWeight™ 49.11‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The GPR54 gene as a regulator of puberty. N Engl J Med 2003 9.54
2 Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci U S A 2004 2.28
3 Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell 2006 2.02
4 New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation 2005 1.87
5 Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res 2005 1.52
6 Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol Genet Metab 2006 1.45
7 Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet 2007 1.44
8 Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol 2008 1.35
9 Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett 2002 1.31
10 Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. J Neuropathol Exp Neurol 2009 1.26
11 Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet 2003 1.26
12 Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol 2009 1.25
13 Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med (Berl) 2007 1.17
14 Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. Biochem Biophys Res Commun 2004 1.16
15 The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Biol Psychiatry 2005 1.15
16 A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet 2003 1.10
17 A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics 2007 1.08
18 Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry 2003 1.07
19 Macroautophagy is defective in mucolipin-1-deficient mouse neurons. Neurobiol Dis 2010 1.07
20 The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Arch 2009 1.04
21 Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res 2011 1.02
22 Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res 2009 1.00
23 Atrioventricular valve development: new perspectives on an old theme. Differentiation 2012 0.98
24 Functional multimerization of mucolipin channel proteins. J Cell Physiol 2010 0.97
25 Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. Hum Mutat 2007 0.93
26 Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? Brain Res 2003 0.93
27 Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. J Biol Chem 2010 0.92
28 Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A 2003 0.91
29 Molecular genetics of mitral valve prolapse. Curr Opin Cardiol 2007 0.91
30 Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res 2012 0.90
31 IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia. Pediatr Res 2008 0.83
32 The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain. Exp Cell Res 2011 0.82
33 Specific correction of a splice defect in brain by nutritional supplementation. Hum Mol Genet 2011 0.82
34 Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. Acta Neuropathol Commun 2014 0.82
35 Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC Genomics 2002 0.78
36 Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approaches. Adv Exp Med Biol 2002 0.77
37 Hereditary dysautonomias: current knowledge and collaborations for the future. Clin Auton Res 2003 0.75