Restoration of Alpha Dystroglycan Glycosylation in Disease Models of Fukuyama Muscular Dystrophy

2021 ◽  
Author(s):  
Mariko Taniguchi-Ikeda ◽  
Michiyo Koyanagi-Aoi ◽  
Tatsuo Maruyama ◽  
Toru Takaori ◽  
Akiko Hosoya ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Disease Models ◽  
Alpha Dystroglycan

scholarly journals First person – Andreia Nunes

2021 ◽  
Vol 14 (8) ◽  
Keyword(s):  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy ◽  
Early Career ◽  
Disease Models ◽  
First Person ◽  
Early Career Researchers ◽  
School Of Medicine ◽  
Disease Mechanisms ◽  
The University ◽  
Selection Of

ABSTRACT First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Andreia Nunes is first author on ‘ Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models’, published in DMM. Andreia is a postdoc in the lab of Peter L. Jones at the University of Nevada, Reno School of Medicine, Reno, NV, USA, investigating therapeutics for and disease mechanisms of facioscapulohumeral muscular dystrophy.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

2017 ◽  
Vol 27 (11) ◽  
pp. 1043-1046 ◽  
Author(s):  
P.Y.K. Van den Bergh ◽  
Y. Sznajer ◽  
V. Van Parys ◽  
W. van Tol ◽  
R.A. Wevers ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Alpha Dystroglycan

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

2016 ◽  
Vol 26 ◽  
pp. S165-S166
Author(s):  
P. Van den Bergh ◽  
Y. Sznajer ◽  
V. Van Parijs ◽  
W. van Tol ◽  
R. Wevers ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Alpha Dystroglycan

scholarly journals Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance

2005 ◽  
Vol 63 (4) ◽  
pp. 984-989 ◽  
Author(s):  
Conceição Campanario da Silva Pereira ◽  
Beatriz Hitomi Kiyomoto ◽  
Ricardo Cardoso ◽  
Acary Souza Bulle Oliveira
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Cognitive Performance ◽  
Intelligence Quotient ◽  
Intelligence Scale ◽  
Verbal Iq ◽  
Alpha Dystroglycan ◽  
The Relationship ◽  
Muscle Biopsies ◽  
Low Expression

The Duchenne muscular systrophy (DMD) is a muscular dystrophy with cognitive impairment present in 20-30% of the cases. In the present study, in order to study the relationship between the alpha-dystroglycan (alpha-DG) immunostaining in skeletal muscle and cognitive performance in DMD patients, 19 were assessed. Twelve patients performed the intelligence quotient (IQ) below the average. Among the 19 patients, two were assessed by the Stanford-Binet test and 17 by Wechsler Intelligence Scale for Children-III (WISC-III). Nine patients performed a verbal IQ below the average, only three patients performed an average verbal IQ. The muscle biopsies immunostained with antibodies to alpha-DG showed that 17 patients presented a low expression, below 25% of the total fibers. Two patients presented alpha-DG immunostaining above 40% and an IQ within the average. No significant statistical relationship was demonstrated among total IQ, verbal IQ and execution IQ and alpha-DG immunostaining at these patients muscle samples.

scholarly journals TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.

2020 ◽  
Author(s):  
Pinki Munot ◽  
Nadine McCrea ◽  
Silvia Torelli ◽  
Adnan Manzur ◽  
Caroline Sewry ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Weakness ◽  
Membrane Trafficking ◽  
Elevated Serum ◽  
Cerebellar Atrophy ◽  
Muscle Pathology ◽  
Motor Delay ◽  
Recessive Mutations ◽  
Alpha Dystroglycan ◽  
Structural Brain

Abstract Background: TRAPPC11, a subunit of the transport protein particle (TRAPP) complex is important for complex integrity and anterograde membrane transport from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. Several individuals with TRAPPC11 mutations have been reported with muscle weakness and other features including brain, liver, skeletal and eye involvement. A detailed analysis of brain and muscle biopsies will further our understanding of the presentation and etiology of TRAPPC11-disease. Methods: We describe five cases of early-onset TRAPPC11–related muscular dystrophy with a systematic review of muscle pathology in all five individuals, post-mortem brain pathology findings in one individual, and membrane trafficking assays in another. Results: All affected individuals presented in infancy with muscle weakness, motor delay and elevated serum creatine kinase (CK). Additional features included cataracts, liver disease, intellectual disability, cardiomyopathy, movement disorder, and structural brain abnormalities. Muscle pathology in all five revealed dystrophic changes, universal hypoglycosylation of alpha-dystroglycan and variably reduced dystrophin-associated complex proteins. Membrane trafficking assays showed defective Golgi trafficking in one individual. Neuropathological examination of one individual revealed cerebellar atrophy, granule cell hypoplasia, Purkinje cell (PC) loss and dendritic neurodegeneration, reduced alpha-dystroglycan (IIH6) expression in PC and dentate neurons, and absence of neuronal migration defects. Conclusions: This report suggests that recessive mutations in TRAPPC11 are linked to muscular dystrophies with hypoglycosylation of alpha-dystroglycan. The structural brain involvement that we document for the first time resembles the pathology previously reported in N-linked congenital disorders of glycosylation (CDG) such as PMM2-CDG, suggesting defects in multiple glycosylation pathways in this condition.

scholarly journals TRAPPC11 ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain

2021 ◽  
Author(s):  
Pinki Munot ◽  
Nadine McCrea ◽  
Silvia Torelli ◽  
Adnan Manzur ◽  
Caroline Sewry ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Alpha Dystroglycan
Sign in / Sign up

Export Citation Format

Share Document