Results 41 to 50 of about 1,995 (205)

The proteomic profile of hereditary inclusion body myopathy. [PDF]

PLoS ONE, 2011
Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown.
Ilan Sela, Irit Milman Krentsis, Zipora Shlomai, Menachem Sadeh, Ron Dabby, Zohar Argov, Hannah Ben-Bassat, Stella Mitrani-Rosenbaum   +7 more
doaj   +5 more sources

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

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   +2 more sources

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

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   +2 more sources

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan. [PDF]

J Neuromuscul Dis, 2023
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M.   +17 more
europepmc   +3 more sources

Autophagy in GNE Myopathy [PDF]

, 2013
Muscle diseases represent specific muscle pathology. The characteristic features as hallmarks of diseases have been historically used to diagnose the patients. The “Rimmed vacuole (RV)” (Figures 1) is one of such characteristic features in certain groups of the diseases.
Cho, Anna, Noguchi, Satoru
core   +5 more sources

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS) [PDF]

Orphanet Journal of Rare Diseases
Background Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life.
Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa dos Reis Ferreira   +3 more
doaj   +2 more sources

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy. [PDF]

Neurology, 2019
Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T.   +15 more
europepmc   +3 more sources

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. [PDF]

Hum Mutat
GNE myopathy (GNEM) is a rare autosomal recessive disorder characterized by progressive skeletal muscle wasting starting in early adulthood. The prevalence of GNEM is estimated to range between one and nine cases per million individuals, but the accuracy of these estimates is limited by underdiagnosis, misdiagnosis, and bias introduced by founder ...
Derksen A, Thompson R, Shaikh M, Spendiff S, Perkins TJ, Lochmüller H.   +5 more
europepmc   +2 more sources

GNE myopathy: current update and future therapy [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2014
GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (
Ichizo Nishino, Nuria Carrillo, Zohar Argov   +2 more
openalex   +3 more sources

Generation and characterization of a novel gne Knockout Model in Zebrafish

Frontiers in Cell and Developmental Biology, 2022
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Hagay Livne, Hagay Livne, Tom Avital, Shmuel Ruppo, Avi Harazi, Avi Harazi, Stella Mitrani-Rosenbaum, Alon Daya   +7 more
doaj   +1 more source