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ProteomicsREEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy
REEP1 contributes to the shaping of the endoplasmic reticulum (ER) through conserved transmembrane hairpins (THs) and a long C-terminal amphipathic helix. Its loss-of-function causes spastic paraplegia due to degeneration of axons of cortical motoneurons projecting to spinal motoneurons. Patients wi...
ORGANISM(S): Homo sapiens (Human) 
2026-01-19 | PXD067700 | Pride
Reep1 Dhmn Membrane shaping Endoplasmic reticulum Ubiquitination Hsp 
ProteomicsThe membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment
The endoplasmic reticulum (ER) is shaped by abundant membrane curvature-generating proteins that include the REEP family member REEP5. The REEP1 subfamily, consisting of REEP1-4 in mammals, is less abundant and lacks a N-terminal region. Mutations in REEP1 and REEP2 cause Hereditary Spastic Parapleg...
ORGANISM(S): Homo sapiens (Human) 
2025-01-18 | PXD055950 | Pride
Reep5 Reep1 Endoplasmic reticulum Membrane curvature Tubules Vesicles Hereditary spastic paraplegia 
UnknownConverging Role for REEP1/SPG31 in Oxidative Stress.
Not available
S-EPMC9959426 | biostudies-literature
UnknownA spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
Not available
S-EPMC3784524 | biostudies-literature
UnknownThe membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.
Not available
S-EPMC11455953 | biostudies-literature
UnknownScreening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.
Not available
S-EPMC7325443 | biostudies-literature
UnknownREEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
Not available
S-EPMC3919455 | biostudies-literature
UnknownREEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.
Not available
S-EPMC12786278 | biostudies-literature
UnknownAutosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).
Not available
S-EPMC2492855 | biostudies-literature
UnknownRecessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.
Not available
S-EPMC4811389 | biostudies-literature
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