Orphan designation: 2'-O-(2-methoxyethyl)-D-ribose antisense oligonucleotide targeting glial fibrillary acidic protein messenger ribonucleic acid, Treatment of Alexander disease

2020 ◽  
Author(s):  
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Ribonucleic Acid ◽  
Antisense Oligonucleotide ◽  
Acid Treatment ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Messenger Ribonucleic Acid ◽  
Orphan Designation

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 Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease

2017 ◽  
Vol 292 (14) ◽  
pp. 5814-5824 ◽  
Author(s):  
Laura R. Moody ◽  
Gregory A. Barrett-Wilt ◽  
Michael R. Sussman ◽  
Albee Messing
Keyword(s):  
Mouse Model ◽  
Glial Fibrillary Acidic Protein ◽  
Alexander Disease ◽  
Acidic Protein

scholarly journals Refining the concept of GFAP toxicity in Alexander disease

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Albee Messing
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Glial Fibrillary Acidic Protein ◽  
Intermediate Filament ◽  
Alexander Disease ◽  
Acidic Protein ◽  
Sequence Variants ◽  
Main Body ◽  
Gain Of Function ◽  
The Central Nervous System

Abstract Background Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system. Main body In addition to the sequence variants that represent the origin of disease, GFAP accumulation also takes place, together leading to a gain-of-function that has sometimes been referred to as “GFAP toxicity.” Whether the nature of GFAP toxicity in patients, who have mixtures of both mutant and normal protein, is the same as that produced by simple GFAP excess, is not yet clear. Conclusion The implications of these questions for the design of effective treatments are discussed.

scholarly journals Plectin Regulates the Organization of Glial Fibrillary Acidic Protein in Alexander Disease

2006 ◽  
Vol 168 (3) ◽  
pp. 888-897 ◽  
Author(s):  
Rujin Tian ◽  
Martin Gregor ◽  
Gerhard Wiche ◽  
James E. Goldman
Keyword(s):  
Glial Fibrillary Acidic Protein ◽  
Alexander Disease ◽  
Acidic Protein

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
Sign in / Sign up

Export Citation Format

Share Document