Results 81 to 90 of about 1,200 (179)

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +1 more source

Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women

Clinical Pharmacology in Drug Development, Volume 13, Issue 8, Page 876-883, August 2024.
Abstract N‐Acetyl‐D‐mannosamine (ManNAc) is an endogenous monosaccharide and precursor of N‐acetylneuraminic acid (Neu5Ac), a critical sialic acid. ManNAc is currently under clinical development to treat GNE myopathy, a rare muscle‐wasting disease. In this randomized, open‐label, 2‐sequence, crossover study, 16 healthy women and men were administered a
Allan M. Evans, Gianfranco Fornasini, Tahlia R. Meola, William A. Gahl, Marjan Huizing, Thomas M. Polasek, Stephanie E. Reuter   +6 more
wiley   +1 more source

Targeting Immune-Mediated Responses to Tackle GNE Myopathy [PDF]

, 2022
Mariana Barbosa, Beatriz Luís Pereira, Paula A. Videira   +2 more
openalex   +1 more source

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

Frontiers in Neurology, 2020
Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world.
Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Samya Chakravorty, Babi Ramesh Reddy Nallamilli, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Satish Vasant Khadilkar, Madhu Bala Singla, Madhu Bala Singla, Madhu Bala Singla, Ashish Bhutada, Rashna Dastur, Pradnya Satish Gaitonde, Laura E Rufibach, Logan Gloster, Logan Gloster, Madhuri Hegde, Madhuri Hegde   +18 more
doaj   +1 more source

Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition

The FASEB Journal, Volume 38, Issue 13, 15 July 2024.
N‐glycosylation inhibitions by Tunicamycin (TUN) or by knockdown of phosphomannomutase 2 (PMM2) gene block the C2C12 myoblast fusion and impair the myogenic program. TUN treatment decreased myogenic markers and increased atrophy markers in muscles of WT and MLC/mIgf‐1 mice, which overexpress muscle Igf‐1Ea mRNA isoform.
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli, Roberta Saltarelli, Lorenzo Ferri, Laura Barberi, Fabiana Fanelli, Amelia Morrone, Rita Barone, Renzo Guerrini, Antonio Musarò, Vilberto Stocchi, Elena Barbieri   +13 more
wiley   +1 more source

Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance

Molecular Medicine
Rare diseases refer to a group of neglected diseases with low prevalence that face challenges in diagnostics as well as therapeutics due to phenotypic heterogeneity and ineffective clinical trials.
Shagun Singh, Meenakshi Bansal, Neha Sharma, Vikas Yadav, Fluencephila Mashangva, Jyoti Oswalia, Vaishali Gautam, Gagan Deep Jhingan, Naidu Subbarao, Brijesh Rathi, Ranjana Arya   +10 more
doaj   +1 more source

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Asymmetric Distal-Onset GNE Myopathy Mimicking Peripheral Neuropathy: A Case Report

Case Reports in Neurology
Introduction: GNE myopathy is a rare autosomal recessive distal myopathy classically characterized by symmetrical distal muscle weakness with relative quadriceps sparing. However, phenotypic variability, including asymmetric onset, may obscure
Dipta Chandra Kuri, Sadeka Afrin Losy, Mohammad Sadekur Rahman Sarkar, Md. Badrul Alam Mondal   +3 more
doaj   +1 more source

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

Gne-Depletion in C2C12 Myoblasts Leads to Alterations in Glycosylation and Myopathogene Expression

Cells
GNE myopathy is a rare genetic neuromuscular disorder caused by mutations in the GNE gene. The respective gene product, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), is a bifunctional enzyme that initiates endogenous sialic acid ...
Carolin T. Neu, Aristotelis Antonopoulos, Anne Dell, Stuart M. Haslam, Rüdiger Horstkorte   +4 more
doaj   +1 more source