Disease relevance of GLULD1

• Single fiber electromyography ( SFEMG ) of the extensor digitorum communis muscle was performed on 20 patients with either myopathic limb girdle syndromes ( LGS ) or chronic spinal muscular atrophy ( CSMA ) to assess its value in the differential diagnosis of these disorders [1].
• We find that LGS has six binding sites for the hydrophobic surface probe bis-ANS and relieves cellular toxicity caused by amyloid-beta expression in a folding-impaired yeast mutant [2].
• STUDY OBJECTIVE: The purpose of this study was to assess the extent of immune dysfunction in a well-defined group of epileptic patients: children with diagnosis of West syndrome (WS) or with transitions to another age-related EEG patterns, the multifocal independent spikes (MIS), and the slow spike-wave complexes (Lennox-Gastaut syndrome - LGS) [3].

High impact information on GLULD1

• While documenting the structural similarity between LGS and prokaryotic GS-I, the data rule out any involvement of lengsin in glutamine biosynthesis and suggest an unrelated role that may be important for lens homeostasis and transparency [2].
• The discovery of an abundant, novel transcript, lengsin, and a major novel splice form of MP19 reflect the utility of unamplified libraries constructed from dissected tissue [4].
• Among the most abundant cDNAs is one for a novel gene related to glutamine synthetase, which was designated "lengsin" (LGS) [4].
• Lengsin Is a Survivor of an Ancient Family of Class I Glutamine Synthetases Re-engineered by Evolution for a Role in the Vertebrate Lens [5].
• Lengsin is a major protein of the vertebrate eye lens [5].

Biological context of GLULD1

• METHOD: A group of 50 patients (33 with WS, 10 with LGS and 7 with MIS) and 20 age-matched healthy controls were submitted to enumeration of T lymphocyte subsets: CD1, CD3, CD4, CD8, CD4/CD8 ratio and lymphocyte proliferation assay to phytohaemagglutinin (PHA), in the presence of autologous and AB, homologous plasma [3].

Associations of GLULD1 with chemical compounds

• GLULD1, glutamate-ammonia ligase (glutamine synthase) domain containing 1, plays a key role in the uptake and metabolism of glutamate in the retina [6].

Other interactions of GLULD1

• ELOVL5, SMAP1 and GLULD1 were selected on the basis of their location, tissue expression and/or function [6].

Analytical, diagnostic and therapeutic context of GLULD1

• Neurologic examinations (muscle biopsies, standard electromyography, or both) were reviewed in 16 patients and resulted in diagnosing LGS in 11 patients and CSMA in 5 patients [1].
• Single fiber electromyography may be a useful diagnostic aid in the differential diagnosis of myopathic LGS and CSMA [1].
• The effectiveness of AutoPap LGS for detecting abnormal Papanicolaou smear slides was evaluated at multiple No Review rates [7].

References