Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene

Neurology ◽  
2002 ◽  
Vol 58 (10) ◽  
pp. 1541-1543 ◽  
Author(s):  
Y. Sawaishi ◽  
T. Yano ◽  
I. Takaku ◽  
G. Takada
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Protein Gene ◽  
Novel Mutation ◽  
Alexander Disease ◽  
Acidic Protein

A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease

2001 ◽  
Vol 312 (2) ◽  
pp. 71-74 ◽  
Author(s):  
Yoko Aoki ◽  
Kazuhiro Haginoya ◽  
Mitsutoshi Munakata ◽  
Hiroyuki Yokoyama ◽  
Toshiyuki Nishio ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Protein Gene ◽  
Novel Mutation ◽  
Alexander Disease ◽  
Acidic Protein

Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene

2009 ◽  
Vol 49 (6) ◽  
pp. 358-363 ◽  
Author(s):  
Yoshimasa Sueda ◽  
Tetsuya Takahashi ◽  
Kazuhide Ochi ◽  
Toshiho Ohtsuki ◽  
Michito Namekawa ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Protein Gene ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Adult Onset ◽  
Novel Variant

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

2003 ◽  
Vol 350 (3) ◽  
pp. 169-172 ◽  
Author(s):  
Takashi Kinoshita ◽  
Toshihiro Imaizumi ◽  
Yumiko Miura ◽  
Hiroshi Fujimoto ◽  
Mitsuyoshi Ayabe ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Gene Mutation ◽  
Protein Gene ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Adult Onset

Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene

Neurology ◽  
2003 ◽  
Vol 61 (7) ◽  
pp. 1014-1014 ◽  
Author(s):  
A. G. Bassuk ◽  
A. Joshi ◽  
B. K. Burton ◽  
M. B. Larsen ◽  
D. M. Burrowes ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Protein Gene ◽  
Alexander Disease ◽  
Acidic Protein ◽  
New Mutation

An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein

2007 ◽  
Vol 254 (10) ◽  
pp. 1390-1394 ◽  
Author(s):  
K. Ohnari ◽  
M. Yamano ◽  
T. Uozumi ◽  
T. Hashimoto ◽  
S. Tsuji ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Novel Mutation ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Adult Form

Type 2 Alexander disease with a novel glial fibrillary acidic protein gene mutation and its unique clinical features

2017 ◽  
Vol 5 (6) ◽  
pp. 183-185 ◽  
Author(s):  
Yuko Kawahara ◽  
Toru Yamashita ◽  
Yasuyuki Ohta ◽  
Kota Sato ◽  
Emi Nomura ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Gene Mutation ◽  
Clinical Features ◽  
Protein Gene ◽  
Alexander Disease ◽  
Acidic Protein

Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease

2006 ◽  
Vol 28 (1) ◽  
pp. 60-62 ◽  
Author(s):  
Masanobu Kawai ◽  
Norio Sakai ◽  
Susumu Miyake ◽  
Hiroko Tsukamoto ◽  
Motohiro Akagi ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Japanese Patient ◽  
Novel Mutation ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Gene Coding

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

2005 ◽  
Vol 57 (3) ◽  
pp. 310-326 ◽  
Author(s):  
Rong Li ◽  
Anne B. Johnson ◽  
Gajja Salomons ◽  
James E. Goldman ◽  
Sakkubai Naidu ◽  
...  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Protein Mutations

scholarly journals Anomalous placement of introns in a member of the intermediate filament multigene family: an evolutionary conundrum.

1986 ◽  
Vol 6 (5) ◽  
pp. 1529-1534 ◽  
Author(s):  
S A Lewis ◽  
N J Cowan
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Intermediate Filament ◽  
Multigene Family ◽  
Protein Gene ◽  
Sequence Data ◽  
Complete Sequence ◽  
Acidic Protein ◽  
Type I ◽  
Neurofilament Protein ◽  
Gene Encoding

The origin of introns and their role (if any) in gene expression, in the evolution of the genome, and in the generation of new expressed sequences are issues that are understood poorly, if at all. Multigene families provide a favorable opportunity for examining the evolutionary history of introns because it is possible to identify changes in intron placement and content since the divergence of family members from a common ancestral sequence. Here we report the complete sequence of the gene encoding the 68-kilodalton (kDa) neurofilament protein; the gene is a member of the intermediate filament multigene family that diverged over 600 million years ago. Five other members of this family (desmin, vimentin, glial fibrillary acidic protein, and type I and type II keratins) are encoded by genes with six or more introns at homologous positions. To our surprise, the number and placement of introns in the 68-kDa neurofilament protein gene were completely anomalous, with only three introns, none of which corresponded in position to introns in any characterized intermediate filament gene. This finding was all the more unexpected because comparative amino acid sequence data suggest a closer relationship of the 68-kDa neurofilament protein to desmin, vimentin, and glial fibrillary acidic protein than between any of these three proteins and the keratins. It appears likely that an mRNA-mediated transposition event was involved in the evolution of the 68-kDa neurofilament protein gene and that subsequent events led to the acquisition of at least two of the three introns present in the contemporary sequence.

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