Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd-Reference-Cited by-同舟云学术

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Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd

Published:2019-12 Issue:2 Volume:520 Page:341-346
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Shababi Monir,Smith Caley E.,Kacher Mona,Alrawi Zayd,Villalón Eric,Davis Daniel,Bryda Elizabeth C.,Lorson Christian L.

Funder

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference27 articles.

1. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Grohmann;Ann. Neurol.,2003

2. Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1);Rudnik-Schoneborn;Neuropediatrics,2004

3. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21;Grohmann;Am. J. Hum. Genet.,1999

4. Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13;Viollet;Ann. Neurol.,2002

5. The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region;Fukita;J. Biol. Chem.,1993

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1. The molecular mechanisms that underlie IGHMBP2‐related diseases;Neuropathology and Applied Neurobiology;2024-08

2. Disease Mechanisms and Therapeutic Approaches in SMARD1—Insights from Animal Models and Cell Models;Biomedicines;2024-04-11

3. ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity;JCI Insight;2023-01-24

4. Clinically relevant mouse models of Charcot–Marie–Tooth type 2S;Human Molecular Genetics;2022-11-22

5. Defining the optimal dose and therapeutic window in SMA with respiratory distress type I model mice, FVB/NJ-Ighmpb2;Molecular Therapy - Methods & Clinical Development;2021-12

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