A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

被引：65

作者：

Alazami, Anas M.

Adly, Nouran

Al Dhalaan, Hisham ^{[2
]}

Alkuraya, Fowzan S. ^{[1
,3
,4
,5
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia

[3] King Saud Univ, King Khalid Univ Hosp, Dept Pediat, Riyadh, Saudi Arabia

[4] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

[5] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

NEUROGENETICS | 2011年 / 12卷 / 04期

关键词：

ERAD; Aphasia; Intellectual disability; ERLIN2; INOSITOL 1,4,5-TRISPHOSPHATE RECEPTORS; RETICULUM-ASSOCIATED DEGRADATION; PROTEINS;

D O I：

10.1007/s10048-011-0291-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary Spastic Paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported autosomal recessive locus, and show that it is associated with a nullimorphic deletion of ERLIN2, a component of endoplasmic reticulum associated degradation. This finding adds to the growing diversity of cellular functions that are now known to be involved in the maintenance of the corticospinal tract neurons.

引用

页码：333 / 336

页数：4

共 12 条

[1] A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy
Al-Yahyaee, S
Al-Gazali, LI
De Jonghe, P
Al-Barwany, H
Al-Kindi, M
De Vriendt, E
Chand, P
Koul, R
Jacob, PC
Gururaj, A
Sztriha, L
Parrado, A
Van Broeckhoven, C
Bayoumi, RA
[J]. NEUROLOGY, 2006, 66 (08) : 1230 - 1234
[2] Autozygome decoded
Alkuraya, Fowzan S.
[J]. GENETICS IN MEDICINE, 2010, 12 (12) : 765 - 771
[3] Hereditary spastic paraplegias: membrane traffic and the motor pathway
Blackstone, Craig
O'Kane, Cahir J.
Reid, Evan
[J]. NATURE REVIEWS NEUROSCIENCE, 2011, 12 (01) : 31 - 42
[4] The SPFH domain-containing proteins: more than lipid raft markers
Browman, Duncan T.
Hoegg, Maja B.
Robbins, Stephen M.
[J]. TRENDS IN CELL BIOLOGY, 2007, 17 (08) : 394 - 402
[5] FINK JK, 1993, HEREDITARY SPASTIC P
[6] SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and other substrates in mammalian cells
Pearce, Margaret M. P.
Wang, Yuan
Kelley, Grant G.
Wojcikiewicz, Richard J. H.
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (28) : 20104 - 20115
[7] An Endoplasmic Reticulum (ER) Membrane Complex Composed of SPFH1 and SPFH2 Mediates the ER-associated Degradation of Inositol 1,4,5-Trisphosphate Receptors
Pearce, Margaret M. P.
Wormer, Duncan B.
Wilkens, Stephan
Wojcikiewicz, Richard J. H.
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2009, 284 (16) : 10433 - 10445
[8] Expanding the neuron's calcium signaling repertoire: Intracellular calcium release via voltage-induced PLC and IP3R activation
Ryglewski, Stefanie
Pflueger, Hans J.
Duch, Carsten
[J]. PLOS BIOLOGY, 2007, 5 (04) : 818 - 827
[9] Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
Salinas, Sara
Proukakis, Christos
Crosby, Andrew
Warner, Thomas T.
[J]. LANCET NEUROLOGY, 2008, 7 (12) : 1127 - 1138
[10] One step at a time: endoplasmic reticulum-associated degradation
Vembar, Shruthi S.
Brodsky, Jeffrey L.
[J]. NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2008, 9 (12) : 944 - U30

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