KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
Open accessAbstract
Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dysfunction and is thought to be a disease of the sarcomere thin filament. Recently, several proteins of unknown function have been implicated in NM, but the mechanistic basis of their contribution to disease remains unresolved. Here, we demonstrated that loss of a muscle-specific protein, kelch-like family member 40 (KLHL40), results in a nemaline-like myopathy in mice that closely phenocopies muscle abnormalities observed in KLHL40-deficient patients. We determined that KLHL40 localizes to the sarcomere I band and A band and binds to nebulin (NEB), a protein frequently implicated in NM, as well as a putative thin filament protein, leiomodin 3 (LMOD3). KLHL40 belongs to the BTB-BACK-kelch (BBK) family of proteins, some of which have been shown to promote degradation of their substrates. In contrast, we found that KLHL40 promotes stability of NEB and LMOD3 and blocks LMOD3 ubiquitination. Accordingly, NEB and LMOD3 were reduced in skeletal muscle of both Klhl40-/- mice and KLHL40-deficient patients. Loss of sarcomere thin filament proteins is a frequent cause of NM; therefore, our data that KLHL40 stabilizes NEB and LMOD3 provide a potential basis for the development of NM in KLHL40-deficient patients.
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KLHL40 and KLHL41 have a documented role in the biology of nemaline myopathy.
“which have a documented role in the biology of nemaline myopathy146,147.”
From PROTAC targeted protein degraders: the past is prologue (2022) · cites this paper as [147]
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- Authors
- Garg, A., O’Rourke, J., Long, C., Doering, J., Ravenscroft, G., Bezprozvannaya, S., Nelson, B. R., Beetz, N., Li, L., Chen, S., Laing, N. G., Grange, R. W., Bassel-Duby, R., & Olson, E. N.
- Affiliations
- The University of Texas at Dallas (US)
- Virginia Tech (US)
- The University of Western Australia (AU)
- National Institute of Biological Sciences, Beijing (CN)
- The University of Texas Southwestern Medical Center (US)
- Corresponding author
- Olson, Eric N.
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2014-06-24
- Volume
- 124
- Issue
- 8
- Pages
- 3529-3539
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC4109545
- OpenAlex
- W2160719232
- Cited by
- 127
- References
- 64
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 8 · 2023: 11 · 2022: 13 · 2021: 11 · 2020: 12 · 2019: 10 · 2018: 10 · 2017: 5 · 2016: 12 · 2015: 17 · 2014: 4
- FWCI
- 5.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- UWA Profiles and Research Repository (UWA) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- Funders
- Welch Foundation (grant 1-0025, 1–0025)
- University of Texas Southwestern Medical Center
- National Institutes of Health (5u01hl100401-07, HL-077439, HL-100401, U01-HL-100401)
- Medical Research Council
- National Health and Medical Research Council (1022707, 1035955)
- National Heart, Lung, and Blood Institute (T32HL007360, R01HL111665, R01HL077439, HL- 111665, U01-HL-100401, R01HL093039, HL077439, HL093039)
- National Institute of General Medical Sciences (T32GM008014)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK099653, R01DK099653)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- nemaline myopathy, nebulin, protein stability, ubiquitination, skeletal muscle, congenital myopathy
- MeSH terms
- Animals, Animals, Newborn, Cytoskeletal Proteins, Disease Models, Animal, Female, Humans, Male, Mice, Inbred C57BL, Muscle Proteins, Sarcomeres, Myopathies, Nemaline, Mice, Knockout, Muscle, Skeletal, Mice, Protein Interaction Domains and Motifs, Ubiquitination, Protein Stability, Proteolysis
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 ›
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