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Page 1
Distal hereditary motor neuropathies.
Tazir M, Nouioua S. Tazir M, et al. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3. Rev Neurol (Paris). 2024. PMID: 38702287 Review.
The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic disorders and other hereditary neuropathies such as CMT2, mainly with the HSPB1, HSPB8, BICD2 and TRPV4 genes of AD-inherited transmissio …
The determination of the different genes involved in dHMNs made it possible to observe a genotypic overlap with some other neurogenetic diso …
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.
Tedesco B, Peric S, Kocak GS, Tan J, Duong H, Töpf A, Rakocevic-Stojanovic V, Milenkovic S, Parkhurst Y, Gibbs L, Martin-Rios A, Lambiase PD, Guttmann OP, Marini-Bettolo C, Harris E, Harms MB, Ivanovic V, Marchesi V, Milone M, Timmerman V, Straub V, Poletti A, Kimonis V. Tedesco B, et al. Eur J Hum Genet. 2025 Aug;33(8):1015-1024. doi: 10.1038/s41431-025-01868-z. Epub 2025 Jun 4. Eur J Hum Genet. 2025. PMID: 40467930 Free PMC article.
HSPB8 frameshift mutations found in neuromyopathies are translated on the same frame, generating the same C-terminal extension, which causes HSPB8 aggregation and proteostasis defects. ...Our results prove that the last exon of the HSPB8 gene is highly suscep …
HSPB8 frameshift mutations found in neuromyopathies are translated on the same frame, generating the same C-terminal extension, which …
Autophagy induction by piplartine ameliorates axonal degeneration caused by mutant HSPB1 and HSPB8 in Charcot-Marie-Tooth type 2 neuropathies.
Sisto A, van Wermeskerken T, Pancher M, Gatto P, Asselbergh B, Assunção Carreira ÁS, De Winter V, Adami V, Provenzani A, Timmerman V. Sisto A, et al. Autophagy. 2025 May;21(5):1116-1143. doi: 10.1080/15548627.2024.2439649. Epub 2024 Dec 27. Autophagy. 2025. PMID: 39698979 Free PMC article.
HSPB1 [heat shock protein family B (small) member 1] and HSPB8 are essential molecular chaperones for neuronal proteostasis, as they prevent protein aggregation. Mutant HSPB1 and HSPB8 primarily harm peripheral neurons, resulting in axonal Charcot-Marie-Tooth neurop …
HSPB1 [heat shock protein family B (small) member 1] and HSPB8 are essential molecular chaperones for neuronal proteostasis, as they …
Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.
Ohiri JC, Dellefave-Castillo L, Tomar G, Wilsbacher L, Choudhury L, Barefield DY, Fullenkamp D, Gacita AM, Monroe TO, Pesce L, Blancard M, Vaught L, George AL Jr, Demonbreun AR, Puckelwartz MJ, McNally EM. Ohiri JC, et al. J Am Heart Assoc. 2024 May 21;13(10):e030467. doi: 10.1161/JAHA.123.030467. Epub 2024 May 18. J Am Heart Assoc. 2024. PMID: 38761081 Free PMC article.
After exposure to low-dose bortezomib, FLNC-null iPSC-CMs showed an increase in the chaperone proteins BAG3, HSP70 (heat shock protein 70), and HSPB8 (small heat shock protein B8) and in the autophagy marker LC3I/II. FLNC null iPSC-CMs had prolonged electric field potentia …
After exposure to low-dose bortezomib, FLNC-null iPSC-CMs showed an increase in the chaperone proteins BAG3, HSP70 (heat shock protein 70), …
Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India.
Oommen AT, Baskar D, Polavarapu K, Vengalil S, Nashi S, Preethish-Kumar V, Sanka SB, Keerthipriya M, Thomas PT, Arunachal G, Nalini A. Oommen AT, et al. J Clin Neuromuscul Dis. 2025 Jun 2;26(4):167-175. doi: 10.1097/CND.0000000000000468. J Clin Neuromuscul Dis. 2025. PMID: 40512964
Next generation sequencing (NGS) showed the most common gene involved is DES (n = 7, 58.3%) followed by other genes such as HSPB8 (n = 1), FLNC (n = 1), CRYAB (n = 1), LDB3 (n = 1) and TTN (n = 1). CONCLUSIONS: This is the first study on clinic-genetic features of MFM from …
Next generation sequencing (NGS) showed the most common gene involved is DES (n = 7, 58.3%) followed by other genes such as HSPB8 (n …
Identification of Alternatively Spliced Novel Isoforms of Human HSPB8 Gene.
Rashid N, Juneja P, Rathi A, Sultan I, Rehman SU. Rashid N, et al. Protein J. 2024 Aug;43(4):782-792. doi: 10.1007/s10930-024-10215-y. Epub 2024 Jul 9. Protein J. 2024. PMID: 38980537
HSPB8 is a heat shock protein belonging to a family of ATP-independent stress proteins called HSPB which are present far and wide in the cells of various organisms. ...Novel isoform (HSPB8-N1) was predicted to be majorly localized to nuclear region while the reporte …
HSPB8 is a heat shock protein belonging to a family of ATP-independent stress proteins called HSPB which are present far and wide in …
The Spectrum of Small Heat Shock Protein B8 (HSPB8)-Associated Neuromuscular Disorders.
Rashed HR, Nath SR, Milone M. Rashed HR, et al. Int J Mol Sci. 2025 Mar 23;26(7):2905. doi: 10.3390/ijms26072905. Int J Mol Sci. 2025. PMID: 40243504 Free PMC article. Review.
Myopathy and motor neuropathy can coexist. HSPB8 frameshift mutations in the CTD result in HSPB8 mutant aggregation, which weakens the CASA ability to direct misfolded proteins to autophagic degradation. Cellular and animal models indicate that HSPB8 mutation …
Myopathy and motor neuropathy can coexist. HSPB8 frameshift mutations in the CTD result in HSPB8 mutant aggregation, which wea …
HSPB8 promoted intrahepatic cholangiocarcinoma progression by enhancing epithelial-mesenchymal transition and autophagy.
Shu B, Zhou Y, Liang Q, He C, Li F. Shu B, et al. Exp Mol Pathol. 2021 Dec;123:104691. doi: 10.1016/j.yexmp.2021.104691. Epub 2021 Oct 1. Exp Mol Pathol. 2021. PMID: 34606781 Free article.
However, the function of HSPB8 in intrahepatic cholangiocarcinoma (ICC) has not yet been elucidated. This study studied the function of HSPB8 in ICC progression. ...CONCLUSION: HSPB8 promoted ICC progression by enhancing EMT and autophagy. HSPB8 might …
However, the function of HSPB8 in intrahepatic cholangiocarcinoma (ICC) has not yet been elucidated. This study studied the function …
Macrophage-specific autophagy-related gene HSPB8 is involved in the macrophage polarization in atherosclerosis.
Wang J, Zhao C, Zhang B, Liu X. Wang J, et al. BMC Cardiovasc Disord. 2023 Mar 18;23(1):141. doi: 10.1186/s12872-023-03158-2. BMC Cardiovasc Disord. 2023. PMID: 36934244 Free PMC article.
Meanwhile, the proportion of M-CSF in low HSPB8 expression AS group was higher than high expression AS group. Furthermore, the expression of HSPB8 was negatively correlated with most inflammatory factors. CONCLUSION: The downregulation of MARG HSPB8 probably …
Meanwhile, the proportion of M-CSF in low HSPB8 expression AS group was higher than high expression AS group. Furthermore, the expres …
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R, Velazquez R, Zehr JD, Pond SLK, Martin JL, Lucaci AG. Benndorf R, et al. Cell Stress Chaperones. 2022 Jul;27(4):309-323. doi: 10.1007/s12192-022-01268-y. Epub 2022 Jun 9. Cell Stress Chaperones. 2022. PMID: 35678958 Free PMC article.
Mutations in four sHSPs (HspB1, HspB3, HspB5, HspB8) are associated with neuromuscular disorders. The aim of this study is to investigate the evolutionary forces shaping these sHSPs during vertebrate evolution. ...We found that these sHSPs had been historically exposed to …
Mutations in four sHSPs (HspB1, HspB3, HspB5, HspB8) are associated with neuromuscular disorders. The aim of this study is to investi …
36 results