FIGURE

Figure 1

ID

ZDB-FIG-210121-18

Publication

Lu et al., 2021 - Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish

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Figure 1

Identification of LPIN1 mutations from a family presenting with adult-onset muscle weakness. (A) Pedigree of the investigated family. The proband (II:5) was indicated by black arrow. (B) Schematic representation of the localization of identified LPIN1 mutations c.2047A>C (p.I683L) and c.2201G>A (p.R734Q) in the genome structure (top) and protein structure (bottom). (C) Sanger sequencing chromatographs showing two compound heterozygous mutations of c.2047A>C and c.2201G>A presenting in patients. (D-G) Crystal structures of human LPIN1 wild type and mutants carrying p.I683L or p.R734Q, or p.I683L/p.R734Q. (H) LPIN1was highly conserved across different vertebrate species; the conserved I683L and R734Q are highlighted with a star (*).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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