The DOI matches its Crossref record; 61 of the 61 references it cites were found in a registry or an index.
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.
Open accessAbstract
The role of autophagy, a catabolic lysosome-dependent pathway, has recently been recognized in a variety of disorders, including Pompe disease, the genetic deficiency of the glycogen-degrading lysosomal enzyme acid-alpha glucosidase. Accumulation of lysosomal glycogen, presumably transported from the cytoplasm by the autophagic pathway, occurs in multiple tissues, but pathology is most severe in skeletal and cardiac muscle. Skeletal muscle pathology also involves massive autophagic buildup in the core of myofibers. To determine if glycogen reaches the lysosome via autophagy and to ascertain whether autophagic buildup in Pompe disease is a consequence of induction of autophagy and/or reduced turnover due to defective fusion with lysosomes, we generated muscle-specific autophagy-deficient Pompe mice. We have demonstrated that autophagy is not required for glycogen transport to lysosomes in skeletal muscle. We have also found that Pompe disease involves induction of autophagy but manifests as a functional deficiency of autophagy because of impaired autophagosomal-lysosomal fusion. As a result, autophagic substrates, including potentially toxic aggregate-prone ubiquitinated proteins, accumulate in Pompe myofibers and may cause profound muscle damage.
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.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Impaired autophagy is known to induce skeletal myofiber degeneration and muscle weakness (Masiero et al., 2009; Raben et al., 2008).”
From Proteasome dysfunction induces muscle growth defects and protein aggregation (2014) · cites this paper as Raben et al., 2008
Experimental — accuracy not yet measuredIn the citing paper
“Likewise, impairment of autophagy by muscle-specific ablation of ATG5 and ATG7 induces accumulation of abnormal mitochondria, induction of oxidative stress, apoptosis, muscle atrophy, weakness, several features of myopathy [230, 231].”
From The connection between the dynamic remodeling of the mitochondrial network and the regulation of muscle mass (2021) · cites this paper as [230]
In the citing paper
“Analogously, conditional Atg5 deletion in mouse skeletal muscle leads to accumulation of ubiquitin-positive inclusions and ultrastructural disorganization [478].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [478]
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
LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing.
Kabeya, Y., Mizushima, N., Ueno, T., Yamamoto, A., Kirisako, T., Noda, T., Kominami, E., Ohsumi, Y., & Yoshimori, T. (2000) · The EMBO Journal · doi:10.1093/emboj/19.21.5720 · Cited by 6,605
Self-citationAutophagy fights disease through cellular self-digestion
Mizushima, N., Levine, B., Cuervo, A. M., & Klionsky, D. J. (2008) · Nature · doi:10.1038/nature06639 · Cited by 6,452
Self-citationPankiv, S., Clausen, T. H., Lamark, T., Brech, A., Bruun, J.-A., Outzen, H., Øvervatn, A., Bjørkøy, G., & Johansen, T. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m702824200 · Cited by 4,578
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
Hara, T., Nakamura, K., Matsui, M., Yamamoto, A., Nakahara, Y., Suzuki-Migishima, R., Yokoyama, M., Mishima, K., Saito, I., Okano, H., et al. (2006) · Nature · doi:10.1038/nature04724 · Cited by 3,882
Self-citationLevine, B., & Klionsky, D. J. (2004) · Developmental Cell · doi:10.1016/s1534-5807(04)00099-1 · Cited by 3,728
Identification of ubiquitin ligases required for skeletal muscle atrophy.
Bodine, S. C., Latres, E., Baumhueter, S., Lai, V. K.-M., Nunez, L., Clarke, B. A., Poueymirou, W. T., Panaro, F. J., Na, E., Dharmarajan, K., et al. (2001) · Science · doi:10.1126/science.1065874 · Cited by 3,521
Loss of autophagy in the central nervous system causes neurodegeneration in mice
Komatsu, M., Waguri, S., Chiba, T., Murata, S., Iwata, J.-I., Tanida, I., Ueno, T., Koike, M., Uchiyama, Y., Kominami, E., et al. (2006) · Nature · doi:10.1038/nature04723 · Cited by 3,500
Bjørkøy, G., Lamark, T., Brech, A., Outzen, H., Perander, M., Øvervatn, A., Stenmark, H., & Johansen, T. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200507002 · Cited by 3,276
Sandri, M., Sandri, C., Gilbert, A., Skurk, C., Calabria, E., Picard, A., Walsh, K., Schiaffino, S., Lecker, S. H., & Goldberg, A. L. (2004) · Cell · doi:10.1016/s0092-8674(04)00400-3 · Cited by 3,012
The role of autophagy during the early neonatal starvation period
Kuma, A., Hatano, M., Matsui, M., Yamamoto, A., Nakaya, H., Yoshimori, T., Ohsumi, Y., Tokuhisa, T., & Mizushima, N. (2004) · Nature · doi:10.1038/nature03029 · Cited by 2,865
Self-citationImpairment of starvation-induced and constitutive autophagy in Atg7 -deficient mice
Komatsu, M., Waguri, S., Ueno, T., Iwata, J., Murata, S., Tanida, I., Ezaki, J., Mizushima, N., Ohsumi, Y., Uchiyama, Y., et al. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200412022 · Cited by 2,331
Self-citationGuidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
Klionsky, D. J., Abeliovich, H., Agostinis, P., Agrawal, D. K., Aliev, G., Askew, D. S., Baba, M., Baehrecke, E. H., Bahr, B. A., Ballabio, A., et al. (2008) · Autophagy · doi:10.4161/auto.5338 · Cited by 2,230
Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice.
Komatsu, M., Waguri, S., Koike, M., Sou, Y.-S., Ueno, T., Hara, T., Mizushima, N., Iwata, J.-I., Ezaki, J., Murata, S., et al. (2007) · Cell · doi:10.1016/j.cell.2007.10.035 · Cited by 2,124
Self-citationAutophagy: from phenomenology to molecular understanding in less than a decade
Klionsky, D. J. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2245 · Cited by 1,977
Atrogin-1, a muscle-specific F-box protein highly expressed during muscle atrophy
Gomes, M. D., Lecker, S. H., Jagoe, R. T., Navon, A., & Goldberg, A. L. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.251541198 · Cited by 1,774
Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression
Lecker, S. H., Jagoe, R. T., Gilbert, A., Gomes, M., Baracos, V., Bailey, J., Price, S. R., Mitch, W. E., & Goldberg, A. L. (2004) · The FASEB Journal · doi:10.1096/fj.03-0610com · Cited by 1,539
LC3 conjugation system in mammalian autophagy
Tanida, I., Ueno, T., & Kominami, E. (2004) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2004.05.009 · Cited by 1,512
Dissection of Autophagosome Formation Using Apg5-Deficient Mouse Embryonic Stem Cells
Mizushima, N., Yamamoto, A., Hatano, M., Kobayashi, Y., Kabeya, Y., Suzuki, K., Tokuhisa, T., Ohsumi, Y., & Yoshimori, T. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.152.4.657 · Cited by 1,361
Self-citation4 Histology and Histopathology
(2015) · Thieme eBooks · doi:10.1055/b-0035-108581 · Cited by 1,052
The molecular machinery of autophagy: unanswered questions
Klionsky, D. J. (2004) · Journal of Cell Science · doi:10.1242/jcs.01620 · Cited by 960
Autophagosome Formation in Mammalian Cells.
Mizushima, N., Ohsumi, Y., & Yoshimori, T. (2002) · Cell Structure and Function · doi:10.1247/csf.27.421 · Cited by 897
Self-citationStructural Basis for Sorting Mechanism of p62 in Selective Autophagy
Ichimura, Y., Kumanomidou, T., Sou, Y.-S., Mizushima, T., Ezaki, J., Ueno, T., Kominami, E., Yamane, T., Tanaka, K., & Komatsu, M. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m802182200 · Cited by 803
Burkholder, T. J., Fingado, B., Baron, S., & Lieber, R. L. (1994) · Journal of Morphology · doi:10.1002/jmor.1052210207 · Cited by 527
Autophagy: a regulated bulk degradation process inside cells
Yoshimori, T. (2003) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2003.07.023 · Cited by 519
A block of autophagy in lysosomal storage disorders
Settembre, C., Fraldi, A., Jahreiss, L., Spampanato, C., Venturi, C. B., Medina, D. L., de Pablo, R., Tacchetti, C., Rubinsztein, D. C., & Ballabio, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm289 · Cited by 509
The Itinerary of Autophagosomes: From Peripheral Formation to Kiss‐and‐Run Fusion with Lysosomes
Jahreiss, L., Menzies, F. M., & Rubinsztein, D. C. (2008) · Traffic · doi:10.1111/j.1600-0854.2008.00701.x · Cited by 490
Microtubules Facilitate Autophagosome Formation and Fusion of Autophagosomes with Endosomes
Köchl, R., Hu, X. W., Chan, E. Y. W., & Tooze, S. A. (2005) · Traffic · doi:10.1111/j.1600-0854.2005.00368.x · Cited by 458
Role of protein ubiquitylation in regulating endocytosis of receptor tyrosine kinases
Marmor, M. D., & Yarden, Y. (2004) · Oncogene · doi:10.1038/sj.onc.1207390 · Cited by 382
Patterns of gene expression in atrophying skeletal muscles: response to food deprivation
Jagoe, R. T., Lecker, S. H., Gomes, M., & Goldberg, A. L. (2002) · The FASEB Journal · doi:10.1096/fj.02-0312com · Cited by 344
Koike, M., Shibata, M., Waguri, S., Yoshimura, K., Tanida, I., Kominami, E., Gotow, T., Peters, C., von Figura, K., Mizushima, N., et al. (2005) · The American Journal of Pathology · doi:10.1016/s0002-9440(10)61253-9 · Cited by 330
Self-citationDownstream of Akt: FoxO3 and mTOR in the regulation of autophagy in skeletal muscle
Mammucari, C., Schiaffino, S., & Sandri, M. (2008) · Autophagy · doi:10.4161/auto.5905 · Cited by 303
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
Fukuda, T., Ewan, L. A., Bauer, M., Mattaliano, R. J., Zaal, K. J. M., Ralston, E., Plötz, P. H., & Raben, N. (2006) · Annals of Neurology · doi:10.1002/ana.20807 · Cited by 303
Self-citationRaben, N., Nagaraju, K., Lee, E. Y., Kessler, P., Byrne, B. J., Lee, L., LaMarca, M. E., King, C., Ward, J. M., Sauer, B., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.30.19086 · Cited by 299
Self-citationFass, E., Shvets, E., Degani, I., Hirschberg, K., & Elazar, Z. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m607031200 · Cited by 286
Kishnani, P. S., Nicolino, M. P., Voït, T., Rogers, R. C., Tsai, A. C., Waterson, J. R., Herman, G. E., Amalfitano, A., Thurberg, B. L., Richards, S. M., et al. (2006) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2006.02.035 · Cited by 282
Thurberg, B. L., Maloney, C., Vaccaro, C. A., Afonso, K., Tsai, A. C., Bossen, E. H., Kishnani, P. S., & O'Callaghan, M. G. (2006) · Laboratory Investigation · doi:10.1038/labinvest.3700484 · Cited by 261
Gene targeting restricted to mouse striated muscle lineage
Miniou, P. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.19.e27 · Cited by 226
Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease
Fukuda, T., Ahearn, M., Roberts, A., Mattaliano, R. J., Zaal, K. J. M., Ralston, E., Plötz, P. H., & Raben, N. (2006) · Molecular Therapy · doi:10.1016/j.ymthe.2006.08.009 · Cited by 190
Self-citationUbiquitin and endocytic internalization in yeast and animal cells
Dupré‐Crochet, S., Urban‐Grimal, D., & Haguenauer‐Tsapis, R. (2004) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2004.09.024 · Cited by 179
Glycogen autophagy in glucose homeostasis
Kotoulas, O. B., Kalamidas, S. A., & Kondomerkos, D. J. (2006) · Pathology - Research and Practice · doi:10.1016/j.prp.2006.04.001 · Cited by 150
Raben, N., Fukuda, T., Gilbert, A. L., de Jong, D., Thurberg, B. L., Mattaliano, R. J., Meikle, P. J., Hopwood, J. J., Nagashima, K., Nagaraju, K., et al. (2004) · Molecular Therapy · doi:10.1016/j.ymthe.2004.09.017 · Cited by 140
Self-citationAutophagy, Mitochondria and Cell Death in Lysosomal Storage Diseases
Kiselyov, K. I., Jennings, J. J., Jr., Rbaibi, Y., & Chu, C. T. (2007) · Autophagy · doi:10.4161/auto.3906 · Cited by 128
Autophagic vacuolar myopathies
Nishino, I. (2003) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-003-0040-y · Cited by 123
Autophagy and Lysosomes in Pompe Disease
Fukuda, T., Roberts, A., Ahearn, M., Zaal, K. J. M., Ralston, E., Plötz, P. H., & Raben, N. (2006) · Autophagy · doi:10.4161/auto.2984 · Cited by 120
Self-citationDeconstructing Pompe Disease by Analyzing Single Muscle Fibers: “To See a World in a Grain of Sand…”
Raben, N., Takikita, S., Pittis, M. G., Bembi, B., Marie, S. K. N., Roberts, A., PAGE, L. C., Kishnani, P. S., Schoser, B. G. H., Chien, Y., et al. (2007) · Autophagy · doi:10.4161/auto.4591 · Cited by 112
Self-citationWeihl, C. C., Miller, S., Hanson, P. I., & Pestronk, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm037 · Cited by 104
Autophagic Vacuoles with Sarcolemmal Features Delineate Danon Disease and Related Myopathies
Sugie, K., Noguchi, S., Kozuka, Y., Arikawa‐Hirasawa, E., Tanaka, M., Yan, C., Säftig, P., FIGURA, K. V., Hirano, M., Ueno, S., et al. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.6.513 · Cited by 101
Miyamoto, T., & Tsujino, S. (2004) · Encyclopedic Dictionary of Genetics, Genomics and Proteomics · doi:10.1002/0471684228.egp00101 · Cited by 100
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms
Askanas, V., & Engel, W. K. (2002) · Current Opinion in Neurology · doi:10.1097/00019052-200210000-00002 · Cited by 95
AUTOPHAGIC DEGRADATION OF GLYCOGEN IN SKELETAL MUSCLES OF THE NEWBORN RAT
Schiaffino, S., & Hanzlíková, V. (1972) · The Journal of Cell Biology · doi:10.1083/jcb.52.1.41 · Cited by 89
Tumour vascularity and proliferation: clear evidence of a close relationship
Weidner, N. (1999) · The Journal of Pathology · doi:10.1002/(sici)1096-9896(199911)189:3 · Cited by 87
Barrière, H., Nemes, C., Du, K., & Lukács, G. L. (2007) · Molecular Biology of the Cell · doi:10.1091/mbc.e07-07-0678 · Cited by 84
Kotoulas, O. B., Kalamidas, S. A., & Kondomerkos, D. J. (2004) · Microscopy Research and Technique · doi:10.1002/jemt.20046 · Cited by 70
The role of autophagy in neonatal tissues: Just a response to amino acid starvation?
Schiaffino, S., Mammucari, C., & Sandri, M. (2008) · Autophagy · doi:10.4161/auto.6143 · Cited by 65
Infantile acid maltase deficiency
Griffin, J. L. (1984) · Virchows Archiv B Cell Pathology Including Molecular Pathology · doi:10.1007/bf02889849 · Cited by 60
Kondomerkos, D. J., Kalamidas, S. A., Kotoulas, O. B., & Hann, A. C. (2005) · PubMed · doi:10.14670/hh-20.689 · Cited by 58
Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II
Hesselink, R. P., Wagenmakers, A. J. M., Drost, M. R., & Vusse, G. J. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/s0925-4439(02)00229-6 · Cited by 53
Acid alpha-glucosidase deficiency (Pompe disease)
Fukuda, T., Roberts, A., Plötz, P. H., & Raben, N. (2007) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-007-0024-4 · Cited by 51
Self-citationKondomerkos, D. J., Kalamidas, S. A., & Kotoulas, O. B. (2004) · Microscopy Research and Technique · doi:10.1002/jemt.20000 · Cited by 39
Hawes, M. L., Kennedy, W., O'Callaghan, M. W., & Thurberg, B. L. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.04.018 · Cited by 39
Effects of non-contractile inclusions on mechanical performance of skeletal muscle
Drost, M. R., Hesselink, R. P., Oomens, C. W. J., & Vusse, G. J. (2004) · Journal of Biomechanics · doi:10.1016/j.jbiomech.2004.05.040 · Cited by 33
Flagged first, then by citations
Research works printed but not linked: 2
- Kondomerkos, 2005, Histology and histopathology, 20, 689
- 2001, PNAS, 98, 14440, 10.1073/pnas.251541198 · DOI · Paper page
Cited by
Sorted by citations
Autophagy: Renovation of Cells and Tissues
Mizushima, N., & Komatsu, M. (2011) · Cell · doi:10.1016/j.cell.2011.10.026 · Cited by 6,615
“Skeletal Muscle Mice with Atg5 (Raben et al., 2008) or Atg7 (Masiero et al.”
BackgroundSelf-citationSelective autophagy mediated by autophagic adapter proteins
Johansen, T., & Lamark, T. (2011) · Autophagy · doi:10.4161/auto.7.3.14487 · Cited by 1,788
Regulation of Mammalian Autophagy in Physiology and Pathophysiology
Ravikumar, B., Sarkar, S., Davies, J. E., Futter, M., García-Arencibia, M., Green-Thompson, Z. W., Jiménez-Sánchez, M., Korolchuk, V. I., Lichtenberg, M., Luo, S., et al. (2010) · Physiological Reviews · doi:10.1152/physrev.00030.2009 · Cited by 1,789
Autophagy in mammalian development and differentiation
Mizushima, N., & Levine, B. (2010) · Nature Cell Biology · doi:10.1038/ncb0910-823 · Cited by 1,555
Self-citationMechanisms regulating skeletal muscle growth and atrophy
Schiaffino, S., Dyar, K. A., Ciciliot, S., Blaauw, B., & Sandri, M. (2013) · The FEBS Journal · doi:10.1111/febs.12253 · Cited by 1,492
Metadata
- Authors
- Raben, N., Hill, V., Shea, L., Takikita, S., Baum, R., Mizushima, N., Ralston, E., & Plotz, P.
- Affiliations
- National Institutes of Health (US)
- Tokyo Medical and Dental University (JP)
- Corresponding author
- Raben, N.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-09-04
- Volume
- 17
- Issue
- 24
- Pages
- 3897-3908
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2638578
- OpenAlex
- W2136000647
- Cited by
- 352
- References
- 61
- Citations by year
- 2026: 14 · 2025: 10 · 2024: 15 · 2023: 19 · 2022: 21 · 2021: 21 · 2020: 16 · 2019: 18 · 2018: 17 · 2017: 23 · 2016: 18 · 2015: 26 · 2014: 25 · 2013: 21 · 2012: 33
- FWCI
- 12.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- York University
- Institut National de la Santé et de la Recherche Médicale
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Autophagy in Disease and Therapy
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Keywords
- Pompe disease, autophagy, skeletal muscle, acid alpha-glucosidase deficiency, lysosomal glycogen accumulation, ubiquitinated proteins, protein aggregation, muscle damage
- MeSH terms
- alpha-Glucosidases, Animals, Autophagy, Female, Glycogen Storage Disease Type II, Male, Mice, Transgenic, Muscular Diseases, Proteins, Mice, Knockout, Muscle, Skeletal, Mice, Ubiquitination
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
