(Q28263286)

title

Deficiency in protein L-isoaspartyl methyltransferase results in a fatal progressive epilepsy (English)

1 reference

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12 May 2020

author name string

A Yamamoto

1

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12 May 2020

H Takagi

2

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12 May 2020

D Kitamura

3

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12 May 2020

H Tatsuoka

4

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12 May 2020

H Nakano

5

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12 May 2020

H Kawano

6

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12 May 2020

H Kuroyanagi

7

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12 May 2020

Y Yahagi

8

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12 May 2020

S Kobayashi

9

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12 May 2020

K Koizumi

10

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12 May 2020

T Sakai

11

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12 May 2020

K Saito

12

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12 May 2020

T Chiba

13

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12 May 2020

K Kawamura

14

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12 May 2020

K Suzuki

15

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12 May 2020

T Watanabe

16

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12 May 2020

H Mori

17

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12 May 2020

T Shirasawa

18

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12 May 2020

language of work or name

English

0 references

publication date

15 March 1998

0 references

published in

Journal of Neuroscience

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12 May 2020

volume

18

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12 May 2020

issue

6

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12 May 2020

page(s)

2063-2074

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Mossy fiber synaptic reorganization in the epileptic human temporal lobe

12 May 2020

cites work

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12 December 2020

Endogenous serine protease inhibitor modulates epileptic activity and hippocampal long-term potentiation

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12 December 2020

Application of novel vectors for GFP-tagging of proteins to study microtubule-associated proteins

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12 December 2020

Molecular aging of tubulin: accumulation of isoaspartyl sites in vitro and in vivo

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12 December 2020

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

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12 December 2020

Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate

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12 December 2020

Recognition of D-aspartyl residues in polypeptides by the erythrocyte L-isoaspartyl/D-aspartyl protein methyltransferase. Implications for the repair hypothesis.

1 reference

12 December 2020

A method for identifying the carboxy terminal amino acid of a protein

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12 December 2020

Immunohistochemical localization of neurocan and L1 in the formation of thalamocortical pathway of developing rats.

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12 December 2020

Protein L-isoaspartyl methyltransferase: developmentally regulated gene expression and protein localization in the central nervous system of aged rat

1 reference

12 December 2020

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

1 reference

12 December 2020

Identification and topography of substrates for protein carboxyl methyltransferase in synaptic membrane and myelin-enriched fractions of bovine and rat brain.

1 reference

12 December 2020

Referential derivation of epidural electroencephalogram in El mice.

1 reference

12 December 2020

Partial epilepsy: chinks in the armour

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12 December 2020

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

1 reference

12 December 2020

The patterns of spinal deformity in Duchenne muscular dystrophy

1 reference

12 December 2020

Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice

1 reference

12 December 2020

Widespread phylogenetic distribution of a protein methyltransferase that modifies L-isoaspartyl residues.

1 reference

12 December 2020

Spontaneous Degradation and Enzymatic Repair of Aspartyl and Asparaginyl Residues in Aging Red Cell Proteins Analyzed by Computer Simulation

1 reference

12 December 2020

Conversion of isoaspartyl peptides to normal peptides: implications for the cellular repair of damaged proteins

1 reference

12 December 2020

Stoichiometric methylation of porcine adrenocorticotropin by protein carboxyl methyltransferase requires deamidation of asparagine 25. Evidence for methylation at the alpha-carboxyl group of atypical L-isoaspartyl residues

1 reference

12 December 2020

Targeting epilepsy genes

1 reference

12 December 2020

Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2

1 reference

12 December 2020

Lafora disease: a progressive myoclonus epilepsy

1 reference

12 December 2020

Mapping of genes predisposing to idiopathic generalized epilepsy

1 reference

12 December 2020

Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes

1 reference

12 December 2020

Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor.

1 reference

12 December 2020

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

1 reference

12 December 2020

Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

1 reference

12 December 2020

Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice

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12 December 2020

Sound-induced seizures in serotonin 5-HT2c receptor mutant mice

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12 December 2020

Protein carboxyl methyltransferases: two distinct classes of enzymes

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12 December 2020

A B cell-deficient mouse by targeted disruption of the membrane exon of the immunoglobulin mu chain gene

1 reference

12 December 2020

Deamidation, isomerization, and racemization at asparaginyl and aspartyl residues in peptides. Succinimide-linked reactions that contribute to protein degradation

1 reference

12 December 2020

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

1 reference

12 December 2020

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

1 reference

12 December 2020

Epileptic seizures caused by inactivation of a novel gene, jerky, related to centromere binding protein-B in transgenic mice

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12 December 2020

Chronic implantation technique for monopolar EEG monitoring of epileptic seizures in mice

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12 December 2020

Spontaneous alterations in the covalent structure of synapsin I during in vitro aging.

1 reference

12 December 2020

Deamidation and isoaspartate formation during in vitro aging of recombinant tissue plasminogen activator.

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12 December 2020

Genomic organization and tissue expression of the murine gene encoding the protein beta-aspartate methyltransferase

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12 December 2020

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

12 December 2020

Partial repair of deamidation-damaged calmodulin by protein carboxyl methyltransferase

1 reference

12 December 2020

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

12 December 2020

Sequence of the D-aspartyl/L-isoaspartyl protein methyltransferase from human erythrocytes. Common sequence motifs for protein, DNA, RNA, and small molecule S-adenosylmethionine-dependent methyltransferases

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12 December 2020

Phospholipase C isozymes selectively couple to specific neurotransmitter receptors

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12 December 2020

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

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12 December 2020

In vitro aging of calmodulin generates isoaspartate at multiple Asn-Gly and Asp-Gly sites in calcium-binding domains II, III, and IV

1 reference

12 December 2020

The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10

1 reference

12 December 2020

Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice

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12 December 2020

Mammalian brain and erythrocyte carboxyl methyltransferases are similar enzymes that recognize both D-aspartyl and L-isoaspartyl residues in structurally altered protein substrates

1 reference

12 December 2020

Methylation at D-aspartyl residues in erythrocytes: possible step in the repair of aged membrane proteins

1 reference

12 December 2020

Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene

1 reference

12 December 2020

10.1523/JNEUROSCI.18-06-02063.1998

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792936&resulttype=core&format=json

12 May 2020

1 reference

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12 May 2020

PubMed publication ID

9482793

1 reference