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Total 475 results found since Jan 2013.

Aberrations in energetic metabolism and stress-related pathways contribute to pathophysiology in the Neb cKO mouse model of nemaline myopathy
Am J Pathol. 2023 Jul 6:S0002-9440(23)00240-7. doi: 10.1016/j.ajpath.2023.06.009. Online ahead of print.ABSTRACTNemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. While NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted well. The common pathological endpoint of nemaline rods (despite diverse genetic causes) and an unexplained range of muscle weakness suggests that shared secondary processes contributed to the pathogenesis of NM. We speculated that these processes ...
Source: Am J Pathol - July 8, 2023 Category: Pathology Authors: Rebecca A Slick Jennifer A Tinklenberg Jessica Sutton Liwen Zhang Hui Meng Margaret Beatka Mark Vanden Avond Mariah J Prom Emily Ott Federica Montanaro James Heisner Rafael Toro Henk Granzier Aron M Geurts David Stowe R Blake Hill Michael W Lawlor Source Type: research

Different mouse models of nemaline myopathy harboring Acta1 mutations display differing abnormalities related to mitochondrial biology
Am J Pathol. 2023 Jul 5:S0002-9440(23)00239-0. doi: 10.1016/j.ajpath.2023.06.008. Online ahead of print.ABSTRACTACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for roughly 30% of nemaline myopathy (NM) cases. Previous studies of weakness in NM have focused on muscle structure and contractility, but genetic issues alone do not explain the phenotypic heterogeneity observed in NM patients or mouse models. To identify additional biological processes related to NM phenotypic severity, proteomic analysis was performed using muscle p...
Source: Am J Pathol - July 7, 2023 Category: Pathology Authors: Jennifer A Tinklenberg Rebecca A Slick Jessica Sutton Liwen Zhang Hui Meng Margaret J Beatka Mark Vanden Avond Mariah J Prom Emily Ott Federica Montanaro James Heisner Rafael Toro Edna C Hardeman Aron M Geurts David Stowe R Blake Hill Michael W Lawlor Source Type: research

Aberrations in energetic metabolism and stress-related pathways contribute to pathophysiology in the Neb cKO mouse model of nemaline myopathy
Nemaline myopathy (NM) is a genetically and clinically heterogeneous disease that is diagnosed based on the presence of nemaline rods on skeletal muscle biopsy. While NM has typically been classified by causative genes, disease severity or prognosis cannot be predicted well. The common pathological endpoint of nemaline rods (despite diverse genetic causes) and an unexplained range of muscle weakness suggests that shared secondary processes contributed to the pathogenesis of NM. We speculated that these processes could be identified through a proteome wide interrogation utilizing a mouse model of severe NM in combination wi...
Source: American Journal of Pathology - July 5, 2023 Category: Pathology Authors: Rebecca A. Slick, Jennifer A. Tinklenberg, Jessica Sutton, Liwen Zhang, Hui Meng, Margaret Beatka, Mark Vanden Avond, Mariah J. Prom, Emily Ott, Federica Montanaro, James Heisner, Rafael Toro, Henk Granzier, Aron M. Geurts, David Stowe, R. Blake Hill, Mic Tags: Regular Article Source Type: research

Different mouse models of nemaline myopathy harboring Acta1 mutations display differing abnormalities related to mitochondrial biology
ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament of the sarcomere. Mutations in ACTA1 are responsible for roughly 30% of nemaline myopathy (NM) cases. Previous studies of weakness in NM have focused on muscle structure and contractility, but genetic issues alone do not explain the phenotypic he terogeneity observed in NM patients or mouse models. To identify additional biological processes related to NM phenotypic severity, proteomic analysis was performed using muscle protein isolates from wild type (WT) mice in comparison to moderately affected KI.
Source: American Journal of Pathology - July 5, 2023 Category: Pathology Authors: Jennifer A. Tinklenberg, Rebecca A. Slick, Jessica Sutton, Liwen Zhang, Hui Meng, Margaret J. Beatka, Mark Vanden Avond, Mariah J. Prom, Emily Ott, Federica Montanaro, James Heisner, Rafael Toro, Edna C. Hardeman, Aron M. Geurts, David Stowe, R. Blake Hil Tags: Regular Article Source Type: research

Megarectum: systematic histopathological evaluation of 35 patients and new common pathways in chronic rectal dilatation
Conclusions In the largest case series reported to date, we challenge the current perception of idiopathic megarectum as a primary neuromuscular disease and propose a cellular pathway model for the features present. The severe morphological changes account for some of the irreversibility of the condition and reinforce the need to prevent ongoing rectal distension when first identified.
Source: Journal of Clinical Pathology - September 19, 2022 Category: Pathology Authors: Martin, J. E., English, W., Kendall, J. V., Sheshappanavar, V., Peroos, S., West, M., Cleeve, S., Knowles, C. Tags: Open access Original research Source Type: research

< em > DNAJB2 < /em > c.184C & gt;T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
Clin Neuropathol. 2022 Jun 2. doi: 10.5414/NP301466. Online ahead of print.ABSTRACTDistal hereditary motor neuropathy (dHMN), also known as distal spinal muscular atrophy (dSMA), comprises a group of inherited peripheral neuropathies with great clinical and genetic heterogeneity, mainly characterized by progressive atrophy and weakness of distal muscle without clinical or electrophysiological sensory abnormalities. Next-generation sequencing is widely applied as an effective diagnostic technique to discover pathogenic genes in patients with dHMN. To date, at least 23 causal genes have been identified to be associated with ...
Source: Clinical Neuropathology - June 2, 2022 Category: Pathology Authors: Meige Liu Yan Xu Daojun Hong Lu Cong Yangyi Fan Jun Zhang Source Type: research

Clinical phenotype of familial amyotrophic lateral sclerosis with < em > SOD1 < /em > gene mutation mimicking proximal myopathy: A case report and literature review
This report expands the knowledge of the clinical phenotype of FALS. For patients with clinical manifestations mimicking proximal myopathy, the possibility of underlying ALS should be considered.PMID:35652543 | DOI:10.5414/NP301459
Source: Clinical Neuropathology - June 2, 2022 Category: Pathology Authors: Jin Mei Sun Cheng Jie Zhang Lin Wang Hong Yan Bi Source Type: research

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