GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:21753178
| Citation |
Zimoń, M, Baets, J, Fabrizi, GM, Jaakkola, E, Kabzińska, D, Pilch, J, Schindler, AB, Cornblath, DR, Fischbeck, KH, Auer-Grumbach, M, Guelly, C, Huber, N, De Vriendt, E, Timmerman, V, Suter, U, Hausmanowa-Petrusewicz, I, Niemann, A, Kochański, A, De Jonghe, P and Jordanova, A (2011) Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology 77:540-8 |
|---|---|
| Abstract |
Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT) neuropathy; however, in rare instances, they also lead to autosomal dominant Charcot-Marie-Tooth (ADCMT). We aimed to investigate the frequency of disease-causing heterozygous GDAP1 mutations in ADCMT and their associated phenotype. |
| Links |
PubMed PMC3272385 Online version:10.1212/WNL.0b013e318228fc70 |
| Keywords |
Animals; Axons/pathology; COS Cells; Cercopithecus aethiops; Charcot-Marie-Tooth Disease/genetics; Cohort Studies; DNA Mutational Analysis; Exons/genetics; Genes, Dominant; Haplotypes; HeLa Cells; Humans; Introns/genetics; Mitochondria/metabolism; Mitochondria/pathology; Mutation; Nerve Tissue Proteins/genetics; Paternity; Pedigree; Phenotype; Reverse Transcriptase Polymerase Chain Reaction |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0008053: mitochondrial fusion |
ECO:0000315: |
P |
GDAP1 responsible for mitochondrial fusion: Figure 3. |
complete | ||||
|
involved_in |
GO:0008053: mitochondrial fusion |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
See Help:References for how to manage references in GONUTS.
