The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Cellular Pathways of Hereditary Spastic Paraplegia
Open accessAbstract
Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticulum, as well as intracellular membrane trafficking and distribution as primary defects underlying the HSPs, with clear relevance for other long axonopathies affecting peripheral nerves and lower motor neurons.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Mitochondrial fusion and fission in cell life and death
Westermann, B. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3013 · Cited by 2,002
Hurd, D. D., & Saxton, W. M. (1996) · Genetics · doi:10.1093/genetics/144.3.1075 · Cited by 379
Edgar, J. M., McLaughlin, M., Yool, D., Zhang, S.-C., Fowler, J. H., Montague, P., Barrie, J. A., McCulloch, M. C., Duncan, I. D., Garbern, J., et al. (2004) · The Journal of Cell Biology · doi:10.1083/jcb.200312012 · Cited by 328
Ferreirinha, F., Quattrini, A., Pirozzi, M., Valsecchi, V., Dina, G., Broccoli, V., Auricchio, A., Piemonte, F., Tozzi, G., Gaeta, L., et al. (2004) · Journal of Clinical Investigation · doi:10.1172/jci200420138 · Cited by 308
Inoue, K. (2005) · Neurogenetics · doi:10.1007/s10048-004-0207-y · Cited by 285
Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., et al. (2009) · Nature Genetics · doi:10.1038/ng.464 · Cited by 260 · cited 1×
“FAM134B is enriched in the cis-Golgi apparatus, and its depletion causes prominent changes in Golgi morphology in neurons (Kurth et al. 2009).”
BackgroundGuelly, C., Zhu, P.-P., Leonardis, L., Papić, L., Zidar, J., Schabhüttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.12.003 · Cited by 143
Self-citationIs fat so bad? Modulation of endoplasmic reticulum stress by lipid droplet formation
Hapala, I., Marza, E., & Ferreira, T. (2011) · Biology of the Cell · doi:10.1042/bc20100144 · Cited by 125
Pearce, M. M. P., Wormer, D. B., Wilkens, S., & Wojcikiewicz, R. J. H. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m809801200 · Cited by 114
Cited by
ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells
Lewis, S. C., Uchiyama, L. F., & Nunnari, J. (2016) · Science · doi:10.1126/science.aaf5549 · Cited by 673
TECPR2 Cooperates with LC3C to Regulate COPII-Dependent ER Export
Stadel, D., Millarte, V., Tillmann, K. D., Huber, J., Tamin-Yecheskel, B.-C., Akutsu, M., Demishtein, A., Ben-Zeev, B., Anikster, Y., Perez, F., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.09.010 · Cited by 128
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Gießelmann, S., Beil, F. T., et al. (2014) · Brain · doi:10.1093/brain/awt357 · Cited by 109
Ryder, P. V., Vistein, R., Gokhale, A., Seaman, M. N., Puthenveedu, M. A., & Faundez, V. (2013) · Molecular Biology of the Cell · doi:10.1091/mbc.e13-02-0088 · Cited by 87
Lee, S., Chang, J., & Blackstone, C. (2016) · Nature Communications · doi:10.1038/ncomms10939 · Cited by 73
Self-citationA disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways
Behrendt, L., Kurth, I., & Kaether, C. (2019) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-019-03010-x · Cited by 48
DDHD2 provides a flux of saturated fatty acids for neuronal energy and function
Saber, S. H., Yak, N., Yong, X. L. H., Bong, Y. T., Leeson, H., Dai, C.-Y., Binder, T., Lu, S., Purushothaman, R., Lenaerts, A.-S., et al. (2025) · Nature Metabolism · doi:10.1038/s42255-025-01367-x · Cited by 44
REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects
Lee, S.-H., Hadipour-Lakmehsari, S., Murthy, H. R., Gibb, N., Miyake, T., Teng, A. C. T., Cosme, J., Yu, J. C., Moon, M., Lim, S., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-14143-9 · Cited by 42
Axonal Organelles as Molecular Platforms for Axon Growth and Regeneration after Injury
Petrova, V., Nieuwenhuis, B., Fawcett, J. W., & Eva, R. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22041798 · Cited by 32
Perspectives on the Genomics of HSP Beyond Mendelian Inheritance
Bis-Brewer, D. M., & Züchner, S. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00958 · Cited by 31
S113R mutation in Slc33a1 leads to neurodegeneration and augmented BMP signaling in a mouse model
Liu, P., Jiang, B., Ma, J., Lin, P., Zhang, Y., Shao, C., Sun, W., & Gong, Y. (2016) · Disease Models & Mechanisms · doi:10.1242/dmm.026880 · Cited by 18
Expression of N471D strumpellin leads to defects in the endolysosomal system
Song, L., Rijal, R., Karow, M., Stumpf, M., Hahn, O., Park, L., Insall, R., Schröder, R., Hofmann, A., Clemen, C. S., et al. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.033449 · Cited by 15
Metadata
- Authors
- Blackstone, C.
- Venue
- Annual Review of Neuroscience
- Publisher
- Annual Reviews
- Published
- 2012-07-21
- Volume
- 35
- Issue
- 1
- Pages
- 25-47
- ISSN
- 0147-006X (ISSN-L)
- 1545-4126
- OpenAlex
- W2134390983
- Cited by
- 282
- References
- 9
- FWCI
- 1.96
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.