MLC1 Antibody

1. Three different MLC1 pathogenic variants from five MLC patients with seven alleles contained the p.Ala275Asp variant in exon 10, two frameshift variants p.(Cys46Alafs*12) and p.(Ile113Glyfs*4) were also identified. PMID: 28840990
2. Novel mutations were identified in MLC1 from a group of Egyptian patients with megalencephalic leukoencephalopathy. PMID: 27389245
3. Out of 20 patients, macrocephaly, classic MRI features, motor development delay and cognitive impairment were detected in 20(100%), 20(100%), 17(85%) and 4(20%) patients, respectively. 20(100%) were clinically diagnosed with MLC. 19(95%) were genetically diagnosed with 10 novel mutations in MLC1, MLC1 and GlialCAM mutations were identified in 15 and 4 patients, respectively PMID: 27322623
4. Study discloses an important role for MLC1 in the control of astrocyte growth and in the regulation of pathways that trigger quiescent astrocytes into reactive ones in response to brain injury. It also shows that MLC1 pathological mutations cause loss of its function, opening new perspectives for the comprehension of MLC disease pathogenesis. PMID: 26908604
5. The extracellular domain of GlialCAM is necessary for cell junction targeting and for mediating interactions with itself or with MLC1 and ClC-2. PMID: 26033718
6. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts PMID: 25497041
7. Gene sequencing identified two heterozygous mutations of MLC1, including missense mutation in exon 3 (c.217G>A, p.Gly73Arg) and splice site mutation in intron 9 (c.772-1G>C in IVS9-1). PMID: 25919557
8. we demonstrate an evolutionary conserved role for MLC1 in regulating glial surface levels of GLIALCAM, and this interrelationship explains why patients with mutations in either gene (MLC1 or GLIALCAM) share the same clinical phenotype. PMID: 24824219
9. This study shows that in astrocytes MLC1 is expressed in early endosomes and recycled through the Rab11+ perinuclear compartment PMID: 24561067
10. clinical spectrum, neuroimaging characteristics and gene involvement in Egyptian patients with megalencephalic leukoencephalopathy with subcortical cysts; deletion/insertion mutation in exon 11 was recurrent in 2 families; a missense mutation in exon 10 was identified in the third family PMID: 24315536
11. results indicate GlialCAM is necessary for MLC1 protein expression, and its reduction affects the activity of volume-regulated anion currents (VRAC) which may cause astrocyte vacuolation; work extends the role of GlialCAM as a chaperone of MLC1 needed for proper VRAC activation PMID: 23793458
12. Proposed is a therapeutic approach for prevention of cardiac contractile dysfunction dependent on MLC1 phosphorylation and degradation. PMID: 23495687
13. that MLC1 plays a role in astrocyte osmo-homeostasis and that defects in intracellular calcium dynamics may contribute to MLC pathogenesis. PMID: 22328087
14. Data show that wildtype MLC1(wt) was localized to the cell periphery, whereas mutant R22Q, A32V, G73E, S69L and T118M were trapped in the lumen of endoplasmic reticulum (ER). PMID: 22416245
15. Reduction of MLC1 expression results in the appearance of astrocyte intracellular vacuoles. This vacuolation is reversed by the co-expression of human MLC1 PMID: 21440627
16. The presence of the c.135_136insC mutation in 29 patients of the Agarwal community suggests a founder effect in Indian patients. PMID: 21555057
17. study presents more detailed characterization of the effect of mutations found in MLC1 and GLIALCAM megalencephalic leukoencephalopathy with subcortical cysts PMID: 21624973
18. Study detected five novel nucleotide variations in the entire coding region of the MLC1 gene. PMID: 21145992
19. Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephlopathy with subcortical cysts is reported. PMID: 21160490
20. through its interaction with ATP1B1, MLC1 is involved in the control of intracellular osmotic conditions and volume regulation in astrocytes, opening new perspectives for understanding the pathological mechanisms of MLC disease. PMID: 20926452
21. We report two patients with megalencephalic leukoencephalopathy with subcortical cysts with confirmed mutations in the MLC1 gene. The mutation in the second patient was novel. We also review identified mutations in the Turkish population. PMID: 20560255
22. Because pathological mutations prevent MLC1 membrane expression, the identification of substances regulating MLC1 intracellular trafficking is potentially relevant for the therapy of MLC. PMID: 19931615
23. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. PMID: 11935341
24. a novel polymorphism in exon 11 of the gene shows no association with schizophrenia PMID: 12111645
25. physical and functional interaction with fortilin: its potential role as a fortilin chaperone PMID: 12149273
26. KIAA0027 alleles were evaluated for potential roles in susceptibility to megalencephalic leukoencephalopathy and schizophrenia. PMID: 12497630
27. A 41-year-old Japanese male with MLC, in whom a homozygous missense mutation, TCG to TTG at codon 93 resulting in S93L, was detected in the MLC1 gene PMID: 12850517
28. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. PMID: 12939431
29. MLC1 may have a role in van der Knaap disease; it is mutated in patients PMID: 14615938
30. Thirty-three affected individuals with MLC were screened. All were from northern India and included 31 known Agarwals. All Agarwal patients were positive for homozygous insertion of a cytosine in exon 2 PMID: 15037685
31. Association of MLC1 with SCZ and BPAD suggests involvement of a common pathway. PMID: 15992519
32. MLC1 gene showed up-regulation expression at both the mRNA and protein levels in HCC tissues and that MLC1 plays an important role in the growth of hepatoma cell SMMC7721 in vitro and vivo. PMID: 16001658
33. analysis of novel variants in MLC1 in patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts PMID: 16470554
34. 13 novel mutations are associated with Megalencephalic leukoencephalopathy with subcortical cysts. PMID: 16652334
35. in the human brain, MLC1 protein is expressed in astrocyte processes and ependymal cells, where it colocalizes with dystroglycan and syntrophin PMID: 18165104
36. Prenatal diagnosis of megalencephalic leukodystrophy. PMID: 18330867

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HGNC: 17082

OMIM: 604004

KEGG: hsa:23209

STRING: 9606.ENSP00000310375

UniGene: Hs.517729