ATL3 gene mutation in a Chinese family with hereditary sensory neuropathy type 1F

A novel mutation of LRSAM1 in a Chinese family with Charcot-Marie-Tooth disease

(2018) Guohua Zhao et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering

(2018) Michiel Krols et al.   Cell Reports

Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

(2018) Michiel Krols et al.   HUMAN MOLECULAR GENETICS

Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology

(2016) Guohua Zhao et al.   EXPERIMENTAL CELL RESEARCH

Transcriptional regulator PRDM12 is essential for human pain perception

(2015) Ya-Chun Chen et al.   NATURE GENETICS

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

(2014) Dirk Fischer et al.   BRAIN

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

(2014) Uwe Kornak et al.   BRAIN

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology