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Cited by 981

The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

Open access
Roy, Natalie, Mahadevan, Mani S, McLean, Michael, Shutter, Gary, Yaraghi, Zahra, Farahani, Reza, Baird, Stephen, Besner-Johnston, Anne, Lefebvre, Charles, Kang, Xiaolin, Salih, Maysoon, Aubry, Huguette, Tamai, Katsuyuki, Guan, Xiaoping, Ioannou, Panayiotis, Crawford, Thomas O, de Jong, Pieter J, Surh, Linda, Ikeda, Joh-E, Korneluk, Robert G, MacKenzie, Alex·1995·Cell
DOI 10.1016/0092-8674(95)90461-1
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Abstract

The spinal muscular atrophies (SMAs), characterized by spinal cord motor neuron depletion, are among the most common autosomal recessive disorders. One model of SMA pathogenesis invokes an inappropriate persistence of normally occurring motor neuron apoptosis. Consistent with this hypothesis, the novel gene for neuronal apoptosis inhibitory protein (NAIP) has been mapped to the SMA region of chromosome 5q13.1 and is homologous with baculoviral apoptosis inhibitor proteins. The two first coding exons of this gene are deleted in approximately 67% of type I SMA chromosomes compared with 2% of non-SMA chromosomes. Furthermore, RT-PCR analysis reveals internally deleted and mutated forms of the NAIP transcript in type I SMA individuals and not in unaffected individuals. These findings suggest that mutations in the NAIP locus may lead to a failure of a normally occurring inhibition of motor neuron apoptosis resulting in or contributing to the SMA phenotype.

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Metadata

Authors
Roy, N., Mahadevan, M. S., McLean, M., Shutter, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T. O., de Jong, P. J., Surh, L., Ikeda, J.-E., Korneluk, R. G., & MacKenzie, A.
Venue
Cell
Publisher
Elsevier BV
Published
1995-01
Volume
80
Issue
1
Pages
167-178
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/0092-8674(95)90461-1
OpenAlex
W1975449325
Cited by
981
References
31
FWCI
70.06
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. https://app.cochat.ai/papers/10.1016/0092-8674(95)90461-1
The paper
Roy, N., Mahadevan, M. S., McLean, M., Shutter, G., Yaraghi, Z., Farahani, R., Baird, S., Besner-Johnston, A., Lefebvre, C., Kang, X., Salih, M., Aubry, H., Tamai, K., Guan, X., Ioannou, P., Crawford, T. O., de Jong, P. J., Surh, L., Ikeda, J.-E., . . . MacKenzie, A. (1995). The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell. https://doi.org/10.1016/0092-8674(95)90461-1

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.