Wolf-Hirschhorn Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Among 10 patients, one patient did not show "typical WHS facial appearance" although his interstitial deletion included LETM1 and WHSC1.
|
30378700 |
2019 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The significance of LETM1 to mitochondrial Ca<sup>2+</sup> regulation is evident from Wolf-Hirschhorn syndrome patients that harbor a haplodeficiency in LETM1 expression, leading to dysfunctional mitochondrial Ca<sup>2+</sup> handling and from numerous types of cancer cells that show an upregulation of LETM1 expression.
|
30642051 |
2019 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this Opinion, we report and discuss recent findings on LETM1 structure, essentiality, and function and its involvement in Wolf-Hirschhorn syndrome (WHS) and seizures.
|
31101453 |
2019 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
LETM1 deficiency in WHS alters mitochondrial morphology and DNA organization, as does substituting ketone bodies for glucose in control cells.
|
30012579 |
2018 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Altogether, these results show that although loss-of-function for WHSC1 and/or LETM1 contributes to some of the features of WHS, deletion of additional genes is required for the full expression of the phenotype, providing further support that WHS is a contiguous gene deletion disorder.
|
23963300 |
2014 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We consider that haploinsufficiency not limited to LETM1 but including other genes acts as a risk factor for the WHS-associated seizure disorder, according to a comorbidity model of pathogenesis.
|
24738919 |
2014 |
Wolf-Hirschhorn Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Our findings identify novel cellular phenotypes in WHS attributable to a 50% reduction in LETM1 expression level; these phenotypes could underlie and/or contribute to some of the core clinical features of this condition.
|
24626991 |
2014 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Leucine zipper-EF-hand containing transmembrane protein 1 (Letm1) is a mitochondrial protein that is associated with seizure attacks in Wolf-Hirschhorn syndrome.
|
23645710 |
2014 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
We conclude that loss of Letm1 contributes to the pathology of Wolf-Hirschhorn syndrome in humans and may contribute to seizure phenotypes by reducing glucose oxidation and other specific metabolic alterations.
|
23716663 |
2013 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The Wolf-Hirschhorn Syndrome Critical Region WHSCR2 includes the LETM1 gene and 5' end of the WHSC1 gene.
|
23637096 |
2013 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
A Drosophila mutant of LETM1, a candidate gene for seizures in Wolf-Hirschhorn syndrome.
|
20026556 |
2010 |
Wolf-Hirschhorn Syndrome
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome.
|
19729912 |
2009 |
Wolf-Hirschhorn Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Seizures in WHS have been associated with deletion of LETM1 gene.
|
17925330 |
2008 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Characterization of these patients supports the hypothesis that a gene in WHSCR-2, LETM1, plays a direct role in seizure development, and demonstrates that components of the WHS phenotype can be seen with deletions distal to the known boundaries of the two proposed critical regions.
|
17696124 |
2007 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we present cellular and biochemical analysis of Letm1 in mammalian cells and an analysis of a C. elegans mutant that could serve as a model for Wolf-Hirschhorn syndrome.
|
17606466 |
2007 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Hemizygous deletion of their human homolog LETM1 is likely to contribute to the Wolf-Hirschhorn syndrome phenotype.
|
15138253 |
2004 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
The present study presents information about a possible function for LETM1 and suggests that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction.
|
14706454 |
2004 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The present study presents information about a possible function for LETM1 and suggests that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction.
|
14706454 |
2004 |
Wolf-Hirschhorn Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
On the basis of its possible Ca(2+)-binding property and involvement in Ca(2+) signaling and/or homeostasis, we propose that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients.
|
10486213 |
1999 |
Wolf-Hirschhorn Syndrome
|
0.600 |
ChromosomalRearrangement
|
disease |
ORPHANET |
|
|
|
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In this Opinion, we report and discuss recent findings on LETM1 structure, essentiality, and function and its involvement in Wolf-Hirschhorn syndrome (WHS) and seizures.
|
31101453 |
2019 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We found that JIP3 was markedly increased in TLE patients and a mouse model of epileptic seizures; mice underexpressing JIP3 through lentivirus bearing LV-Letm1-RNAi showed decreased susceptibility, delayed first seizure and decreased seizure duration response to the epileptogenic properties of KA.
|
26002316 |
2015 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Haploinsufficiency of LETM1, which encodes a mitochondrial inner-membrane protein functioning in ion transport, has been proposed as an underlying pathomechanism, principally for seizures but also for other core features of WHS, including growth and motor delay.
|
24626991 |
2014 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Behavioral study revealed that inhibition of Letm1 caused early onset of the first seizure, increased seizure frequency, and duration.
|
23645710 |
2014 |
Seizures
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Two of these, encompassing LETM1, were found in subjects who never had seizures.
|
24738919 |
2014 |