PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0270921|axonal neuropathy |
| Sentences | 25 |
| PubMedID- 23536040 | Functional loss of tdp1 causes spinocerebellar ataxia with axonal neuropathy type 1 (scan1). |
| PubMedID- 22155078 | Substitution of the second histidine specifically to arginine contributes to the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 22214184 | A point mutation (h493r) in the human tdp1 gene is physiologically important, as, in the homozygous state, it is responsible for scan1 (spinocerebellar ataxia with axonal neuropathy), an autosomal recessive neurodegenerative syndrome [12]. |
| PubMedID- 23203191 | The neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy-1 (scan1) originates from mutated tyrosyl phosphodiesterase 1 (tdp1), a protein involved in the repair of dna ssb [293]. |
| PubMedID- 20876339 | In human, mutations of the tdp1 gene are involved in the disease spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 23104055 | Tdp1 deficiency is linked to the neurological disease spinocerebellar ataxia with axonal neuropathy (scan1)31,32 and tdp2 activity on 3′-linked topoisomerase adducts appears important in the absence of tdp1 (ref. |
| PubMedID- 20301284 | Spinocerebellar ataxia with axonal neuropathy (scan1) is characterized by late-childhood-onset slowly progressive cerebellar ataxia, followed by areflexia and signs of peripheral neuropathy. |
| PubMedID- 21045516 | An acute motor and sensory axonal neuropathy with cerebellar ataxia associated with anti-gd1b igg and anti-gm1 igg antibodies. |
| PubMedID- 23775789 | A mutation in tdp1 causes the neurodegenerative disease spinocerebellar ataxia with axonal neuropathy (scan1) (20,24,25). |
| PubMedID- 20118933 | Pnkp has been further implicated in the repair pathway disrupted in an ataxic neurodegenerative disease, spinocerebellar ataxia with axonal neuropathy, scan1 (tdp1) (see supplementary information figure 6 for additional details). |
| PubMedID- 22522093 | The h493r mutation, when the histidine 493 is replaced by arginine, is responsible for the autosomal recessive neurodegenerative disease, spinocerebellar ataxia with axonal neuropathy (scan1). |
| PubMedID- 24371269 | Epstein–barr virus-transformed lymphoblastoid cells derived from spinocerebellar ataxia with axonal neuropathy (scan1) patients and from unaffected relatives were obtained from dr james lupski, baylor school of medicine (12). |
| PubMedID- 21737425 | Mutations in the latter two genes, tdp1 and aptx, are causally linked to the neurodegenerative disorders spinocerebellar ataxia with axonal neuropathy (scan1) and ataxia-oculomotor apraxia 1 (aoa1), respectively (12–14). |
| PubMedID- 20936170 | A recessive mutation in the human (tdp1) gene is responsible for the inherited disorder, spinocerebellar ataxia with axonal neuropathy (scan1) [72]. |
| PubMedID- 23626666 | (a) human lymphoblastoid cells (lcls) derived from a normal individual ‘wt’, spinocerebellar ataxia with axonal neuropathy ‘scan1’, or ataxia telangiectasia ‘a–t’ patients, and mouse embryonic fibroblasts (mefs) or quiescent cortical astrocytes from control ‘wt’ or tdp1-/- mice were incubated with dmso (mock) or 30 µm camptothecin (cpt) for 40 min with or without pre-incubation with 10 µm atm inhibitor ku-55933 (atmi) for 2 hours at 37°c. |
| PubMedID- 24637776 | Mutations in tdp1 give rise to spinocerebellar ataxia with axonal neuropathy (scan1) [17]. |
| PubMedID- 22125427 | Spinocerebellar ataxia with axonal neuropathy 1 (scan1) is caused by autosomal recessive mutations in the gene encoding tyrosyl-dna phosphodiesterase 1 (tdp1), a protein required for the repair of dna single-strand breaks that arise independent of dna replication from abortive topoisomerase 1 activity or oxidative stress. |
| PubMedID- 25872942 | In addition, defects in the repair of ssdna breaks also cause neurodegenerative diseases such as spino-cerebellar ataxia with axonal neuropathy 1, scan1 (omim #607251), caused by mutations in tyrosyl-dna phosphodiesterase 1 (tdp1), and microcephaly, seizures and developmental delay, mcsz syndrome (omim #613402), caused by mutations in polynucleotide kinase phosphatase (pnkp). |
| PubMedID- 25327705 | This concept is best illustrated by a catalytic tdp1 mutant that forms the molecular basis of the autosomal recessive neurodegenerative disease spinocerebellar ataxia with axonal neuropathy, and results in an increased stability of its tdp1-dna reaction intermediate. |
| PubMedID- 20687496 | Spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 22084197 | Tdp1 has an essential role in humans as mutation in the tdp1 gene results in the hereditary disease scan1 (spinocerebellar ataxia with axonal neuropathy-1), a degenerative neurological syndrome specifically affecting neurons (48). |
| PubMedID- 21246735 | Cerebellar degeneration is the most common neurological presentation of at, which is also a shared feature among at least three distinct hereditary diseases: spinocerebellar ataxia with axonal neuropathy 1 (scan1), ataxia oculomotor apraxia 1 (aoa1) and ataxia oculomotor apraxia 2 (aoa2). |
| PubMedID- 26331048 | The unusual combination of an elevated afp in an apparent ‘autosomal-dominant’ ataxia with axonal neuropathy led to the consideration of an atypically inherited aoa2. |
| PubMedID- 22415824 | Tyrosyl dna phosphodiesterase 1 (tdp1) repairs dna breaks and is mutated in the disease spinocerebellar ataxia with axonal neuropathy. |
| PubMedID- 24493735 | A homozygous mutation of tdp1 causes spinocerebellar ataxia with axonal neuropathy 1 (scan1), an autosomal recessive neurodegenerative syndrome (16). |
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