更新于：2024-11-01

LMAN1

更新于：2024-11-01

基本信息

别名

ER-Golgi intermediate compartment 53 kDa protein、ERGIC-53、ERGIC53

+ [10]

简介

Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.

关联

靶点

LMAN1

作用机制

LMAN1刺激剂 [+1]

在研机构-

原研机构

Azanta Danmark A/S

在研适应症-

非在研适应症

发热 [+9]

最高研发阶段终止

首次获批国家/地区-

首次获批日期1800-01-20

项与 LMAN1 相关的临床试验

NCT00415311 / Terminated临床1期

A Multicenter, Open-Label, Randomized, Phase 1B Study Evaluating the Safety and Tolerability of Intravenous Recombinant Human Mannose-Binding Lectin (rhMBL) in Liver Transplant Recipients

This is a multicenter, open-label, randomized, Phase 1B study evaluating liver transplant recipients receiving rhMBL (2 cohorts) or without rhMBL (1 cohort).

开始日期2006-12-01

申办/合作机构

Enzon Pharmaceuticals, Inc.

NCT00886496 / Withdrawn临床1期

A Multi-Center Study of the Safety, Tolerability, Pharmacokinetics and Dose Escalation of Intravenous Recombinant Human Mannose-Binding-Lectin (rhMBL) in MBL Deficient Pediatric Hematology/Oncology Patients With Fever and Neutropenia

RATIONALE: Recombinant human mannose-binding lectin (MBL) may be effective in preventing infection in young patients with fever and neutropenia receiving chemotherapy for blood disease or cancer.
PURPOSE: This phase I trial is studying the side effects and best dose of recombinant human mannose-binding lectin in treating young patients with MBL deficiency and fever and neutropenia.

开始日期2006-11-01

申办/合作机构

Enzon Pharmaceuticals, Inc.

[+1]

NCT00388999 / Completed临床1期

Multi-Center,Open-Label,Randomized,Phase 1B Study Evaluating Safety & Tolerability of Intravenous rhMBL in Pts With Multiple Myeloma Receiving Melphalan-Based High-Dose Chemotherapy Followed by Autologous Hematopoietic Stem Cell Transplant

MBL deficient patients enrolled in this protocol are scheduled to be treated with melphalan-based high-dose chemotherapy followed by autologous hematopoietic stem cell transplant (HSCT) for their multiple myeloma. Patients are randomized to 0.5 mg/kg, 1.0 mg/kg, or no rhMBL.

开始日期2006-09-01

申办/合作机构

Enzon Pharmaceuticals, Inc.

100 项与 LMAN1 相关的临床结果

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100 项与 LMAN1 相关的转化医学

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0 项与 LMAN1 相关的专利（医药）

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310

项与 LMAN1 相关的文献（医药）

2024-12-01·Cellular and Molecular Life Sciences

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Article

作者: Kaether, Christoph ; Bruno, Francesca ; Dau, Therese ; Mestres, Iván ; Valkova, Christina ; Calegari, Federico ; Cirri, Emilio ; Anitei, Mihaela

AbstractMutations in the IER3IP1 (Immediate Early Response-3 Interacting Protein 1) gene can give rise to MEDS1 (Microcephaly with Simplified Gyral Pattern, Epilepsy, and Permanent Neonatal Diabetes Syndrome-1), a severe condition leading to early childhood mortality. The small endoplasmic reticulum (ER)-membrane protein IER3IP1 plays a non-essential role in ER-Golgi transport. Here, we employed secretome and cell-surface proteomics to demonstrate that the absence of IER3IP1 results in the mistrafficking of proteins crucial for neuronal development and survival, including FGFR3, UNC5B and SEMA4D. This phenomenon correlates with the distension of ER membranes and increased lysosomal activity. Notably, the trafficking of cargo receptor ERGIC53 and KDEL-receptor 2 are compromised, with the latter leading to the anomalous secretion of ER-localized chaperones. Our investigation extended to in-utero knock-down of Ier3ip1 in mouse embryo brains, revealing a morphological phenotype in newborn neurons. In summary, our findings provide insights into how the loss or mutation of a 10 kDa small ER-membrane protein can cause a fatal syndrome.

2024-10-01·Developmental Cell

Endoplasmic reticulum exit sites are segregated for secretion based on cargo size

Article

作者: Foresti, Ombretta ; Liu, Aofei ; Raote, Ishier ; Cui, Bianxiao ; Malhotra, Vivek ; Saxena, Sonashree ; Aridor, Meir ; Pena Rodriguez, Maria ; Androulaki, Stefania

TANGO1, TANGO1-Short, and cTAGE5 form stable complexes at the endoplasmic reticulum exit sites (ERES) to preferably export bulky cargoes. Their C-terminal proline-rich domain (PRD) binds Sec23A and affects COPII assembly. The PRD in TANGO1-Short was replaced with light-responsive domains to control its binding to Sec23A in U2OS cells (human osteosarcoma). TANGO1-ShortΔPRD was dispersed in the ER membrane but relocated rapidly, reversibly, to pre-existing ERES by binding to Sec23A upon light activation. Prolonged binding between the two, concentrated ERES in the juxtanuclear region, blocked cargo export and relocated ERGIC53 into the ER, minimally impacting the Golgi complex organization. Bulky collagen VII and endogenous collagen I were collected at less than 47% of the stalled ERES, whereas small cargo molecules were retained uniformly at almost all the ERES. We suggest that ERES are segregated to handle cargoes based on their size, permitting cells to traffic them simultaneously for optimal secretion.

2024-03-24·Cureus

A Novel Variant of the LMAN1 Gene in Combined Factor V and Factor VIII Deficiency in a Saudi Female Child: A Case Report

作者: Rayees, Syed ; Alpakra, Mohammed ; Almakki, Zainab E ; Alasmari, Badriah G ; Hassanien, Sara S

Combined factor V and factor VIII deficiency (F5F8D) is an exceedingly rare autosomal recessive disease that causes concomitantly low levels of factor V and factor VIII, leading to mild to moderate bleeding tendencies. Within this disorder, mutations manifest in the lectin mannose-binding protein (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) genes. This report presents a case of a five-year-old Saudi female child who was referred from an otolaryngology clinic, with an incidental finding of prolonged prothrombin time (PT), international normalized ratio (INR), and activated partial thromboplastin time (aPTT) detected during routine preoperative investigations for tonsillectomy, prompting further investigations. There was no prior history of bleeding symptoms in the patient. She was discovered to have low assays of factor V and factor VIII on subsequent investigations. Whole exome sequencing revealed the novel homozygous mutation c.604C>T in the LMAN1 gene, validating the diagnosis of F5F8D.