ライフサイエンスコーパス: HSP

1 HSP cases maintained the ability to walk independently f

2 HSP genes are integral to this program, however, many ar

3 HSP is linked to mutations in several loci known collect

4 HSP is mediated in part by tumor necrosis factor alpha (

5 HSP targeted AHGDM and DOC conjugates demonstrated activ

6 HSP targeted AHGDM and DOC conjugates demonstrated syner

7 HSP targeted DOC conjugates exhibited high potency again

8 We instructed 12 HSP patients and 12 matched controls to respond as rapid

9 MA), type I collagen, heat shock protein-47 (HSP-47), fibronectin (FN), ED-A-FN, and periostin and ac

10 We recruited 608 HSP cases from 519 families of mostly German origin.

11 ced the expression of heat-shock protein 70 (HSP-70) and heme oxygenase 1 (HO-1) and promoted cell su

12 tion with alpha- and beta-tubulin and HSP-70/HSP-90.

13 ulin, heat shock proteins 70 and 90 (HSP-70; HSP-90), and the carbamoyl phosphate synthetase 2/aspart

14 amma-tubulin, heat shock proteins 70 and 90 (HSP-70; HSP-90), and the carbamoyl phosphate synthetase

15 With similarly striking kinetics, activated HSP genes, both chromosomally linked and unlinked, coale

16 e identified 239 patients belonging to 89 AD-HSP families.

17 The prevalence of AD-HSP and frequency of SPG3 and SPG4 mutations in the curr

18 e in half of the autosomal dominant HSPs (AD-HSPs).

19 Exogenously administered HSPs can elicit a variety of immune responses that have

20 ticipates in a network of interactions among HSP proteins involved in ER shaping, and further support

21 Thus, the deletion of CD24 in an HSP-driven model of autoimmunity led to the unexpected d

22 Consistent with an HSP relay, co-chaperones (e.g. HSC70-HSP90-organizing pr

23 Xe exposure enhanced Bcl-2 and HSP-70 expression in human renal tubular epithelial (HK-

24 ludes activation of the chaperones HSP-6 and HSP-60.

25 d axonal degeneration reminiscent of CMT and HSP.

26 y was the largest ever performed for HCA and HSP.

27 cium, disrupts interactions between HER2 and HSP-90, inhibits HER2 signaling, and results in internal

28 nal transduction and a mechanism for HSF and HSP activation.

29 y of the pre-initiation complexes on LSP and HSP brings these transcription units in close proximity,

30 pitation, immunofluorescence microscopy, and HSP knockout using small hairpin RNA and inhibitors (apo

31 , while correcting behavioral, synaptic, and HSP deficits.

32 interaction with alpha- and beta-tubulin and HSP-70/HSP-90.

33 mmatory effect of prozumab, a humanized anti-HSP mAb in murine inflammatory arthritis and colitis, an

34 are the primary drivers of SPG3A-associated HSP.

35 ed no differences in onset latencies between HSP patients and controls.

36 tubular (HK-2) cells, which was abolished by HSP-70 or HO-1 siRNA.

37 immune responses, the peptides chaperoned by HSPs or alpha(2)M are cross-presented on MHC molecules t

38 highly conserved stress response mediated by HSPs could underlie susceptibility to metabolic disease

39 involving TLR4 and classic cardioprotective HSPs.

40 egeneration, and mutations in ATL1 may cause HSP, partly by undermining SOCE.

41 escued by overexpression of the ER chaperone HSP-4 (a homolog of mammalian BiP/grp78).

42 e that includes activation of the chaperones HSP-6 and HSP-60.

43 1 induced the production of type I collagen, HSP-47, FN, and periostin.

44 ve lipid accumulation in neurons and complex HSP syndrome.

45 are a causative basis for recessive complex HSP.

46 damage in patients with pure and complicated HSP suggests that the "primary" corticospinal tract invo

47 lues, .001-.05) in both pure and complicated HSP.

48 ial memory deficits, not only in complicated HSP but also in pure HSP.

49 This posits that cytosolic HSP proteins are sequentially recruited to folding inter

50 phagy as a possible defect in AP-4-deficient HSP.

51 Accordingly, tumor-derived HSPs are in clinical trials for cancer immunotherapy.

52 elicited by spastin proteins with different HSP mutations, independent of microtubule-binding or sev

53 y expands the genetics of autosomal dominant HSP and is the first, to our knowledge, to link mutation

54 ily with pure adult-onset autosomal dominant HSP of unknown genetic origin were included.

55 at is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome).

56 the cause in half of the autosomal dominant HSPs (AD-HSPs).

57 y, curcumin reduced soluble Tau and elevated HSPs involved in Tau clearance, showing that even after

58 repair of damage (e.g., antioxidant enzymes, HSPs), were uniquely more abundant in response to increa

59 ering of microtubules does not fully explain HSP-SPG4.

60 Negative feedback HSP, also known as synaptic scaling, maintains the globa

61 a key contributor, but is not required, for HSP causation.

62 ith LTP, there is no subunit requirement for HSP.

63 en suggested to be the requisite subunit for HSP-induced AMPAR insertion and acute treatment with sig

64 Our studies illustrate how HSPs act to alert the immune system of cellular damage a

65 -43 can be reduced by the activation of HSF1/HSP pathways presents an exciting opportunity for the de

66 stimulatory action of ethanol and identifies HSP-16.48 and HSF-1 as novel regulators of this pathway.

67 While the immunogenic HSPs naturally chaperone peptides within cells and can b

68 SP expression levels could negatively impact HSP chaperone capacity or their participation in the cel

69 The identification of a molecular deficit in HSP in Mecp2 KO neurons provides potentially novel targe

70 This deficit in HSP is bidirectional because Mecp2 KO neurons also faile

71 on is thought to be a predominant feature in HSP, the role of REEP1 mutations in degeneration is larg

72 Here we investigate Mediator involvement in HSP (heat shock protein) gene regulation in the yeast Sa

73 R morphogenesis is a pathogenic mechanism in HSP.

74 the neurodegenerative phenotype observed in HSP and dHMN-V.

75 These delayed onsets in HSP were normalized when the imperative stimulus was com

76 y for the screening of poor renal outcome in HSP.

77 cking of AMPA-type of glutamate receptors in HSP, Mecp2 KO neurons have lower levels of early endosom

78 Delayed reaction times in HSP patients in trials both with and without a SAS would

79 rmal function of the reticulospinal tract in HSP.

80 ltered lipid-mediated signal transduction in HSP pathogenesis.

81 The reticulospinal tract seems unaffected in HSP patients, because startle reflex onsets were normal.

82 ilure in maintaining health of long axons in HSPs.

83 y the mechanisms of progressive axon loss in HSPs and other disorders.

84 modulate protein-handling systems including HSPs and autophagy, thereby reducing the aggregation and

85 It also increased HSP expression and decreased caspase-7 expression, with

86 nergy MWA and RFA also resulted in increased HSP 70 expression and macrophages in the periablational

87 R2B and, independent of transgene, increased HSPs implicated in Tau clearance.

88 elevated HSP90 and HSC70 without increasing HSP mRNAs; that is, without induction of the heat shock

89 ithout causing permanent damage would induce HSPs in the cochlea and inhibit ototoxic drug-induced he

90 subunit during chronic tetrodotoxin-induced HSP using hippocampal cultures derived from AMPAR subuni

91 loped a sound exposure protocol that induces HSPs without causing permanent hearing loss.

92 ring from the autosomal dominantly inherited HSP variant SPG31.

93 ithin cells and can be purified as an intact HSP-peptide complex, the peptides have had to be complex

94 spartin that provide important insights into HSP pathogenesis.

95 uding one that is identical to a human Kif5A HSP allele, we identified three routes to suppression of

96 ated an antitumor response elicited by large HSP-based vaccines.

97 pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and sy

98 Our analysis links HSP to other neurodegenerative disorders and can facilit

99 ibution of glia-mediated spatially localized HSP to post-traumatic epileptogenesis remains poorly und

100 etes impairs the function/expression of many HSPs, including HSP70 and HSP90, key regulators of patho

101 lucidate the mechanism of the TNIP1-mediated HSP repression, we determined that TNIP1 likely represse

102 le-severing protein spastin account for most HSP cases.

103 rgeted after vaccination with native, murine HSPs, and we characterize those cells.

104 Mutated HSP proteins include myelin proteolipid protein (PLP) an

105 sses gene looping, yet neither crumpling nor HSP gene coalescence is affected.

106 plicating ion channel dysfunction as a novel HSP disease mechanism.

107 ppaB repressing factor (NKRF) as a nucleolar HSP essential for nucleolus homeostasis and cell surviva

108 We observed HSP in cultures from GluA1(-)/(-), GluA2(-)/(-), and Glu

109 l therapy, and intravenous administration of HSP targeted HPMA copolymer-docetaxel at 10mg/kg resulte

110 are reported on the basis of the analysis of HSP expression in digests of whole cell lysates.

111 - have been found to underlie many cases of HSP in Northern Europe and North America.

112 in gene (SPAST) are the most common cause of HSP and typically present with a pure form.

113 lysosome function links different classes of HSP proteins, previously considered functionally distinc

114 ng factors, with relevance for counseling of HSP families and planning of future cross-sectional and

115 dren per year) and natural disease course of HSP nephritis (46% initial renal inflammation; 9% subseq

116 n HSP90 inhibitor that causes degradation of HSP chaperones and their client proteins, including epid

117 mor hyperthermia to increase the delivery of HSP targeted macromolecular chemotherapeutics.

118 rate the de novo assembly and disassembly of HSP gene foci.

119 m responsible for the suppressive effects of HSP.

120 a tertiary referral center for evaluation of HSP for a decade until August 2014.

121 disease model driven by forced expression of HSP gp96 at the cell surface (transgenic mice [tm]).

122 upon the constitutive neuronal expression of HSP-16.48, a small heat shock protein (HSP) homolog of h

123 naling molecules that underlie some forms of HSP results in the preferential incorporation of GluA2-l

124 ic implications for the most common forms of HSP.

125 hermore we demonstrated that the function of HSP-16.48 in drug sensitivity surprisingly was independe

126 ect a difference in the level or kinetics of HSP expression between young and old mice in all brain r

127 Loss of HSP hairpin proteins causes ER sheet expansion, partial

128 a standardised pathway for the monitoring of HSP will facilitate the implementation of disease regist

129 Following cross-presentation of HSP-chaperoned peptides by CD91(+) antigen presenting ce

130 ch included upregulation of a broad range of HSP products.

131 se results suggest that TNIP1's reduction of HSP expression levels could negatively impact HSP chaper

132 d and was observed when partial reduction of HSP proteins was combined with expression of dominant-ne

133 ctively recruited to the promoter regions of HSP genes.

134 o possible paths for suppressing symptoms of HSP and related distal neuropathies.

135 is essential for effective transcription of HSP genes by HSF1.

136 ve a genetic diagnosis, and a global view of HSP is lacking.

137 Although immunologic effects of HSPs on APCs described to date have largely been demonst

138 revealed upregulation of additional forms of HSPs and the downregulation of enzymes of the photosynth

139 core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associate

140 These results indicate that regulation of HSPs may be through a yet unknown TNIP1-associated pathw

141 d sarcomere dynamics, marked upregulation of HSPs, and reduced myotube resilience following mechanica

142 ,322 million were diagnosed as having HCA or HSP, a prevalence of 12.9 per 100,000 population.

143 expression of the alpha-crystallin ortholog HSP-16.48 Using a combination of pharmacology, optogenet

144 ng in shot1-2 increases transcripts of other HSPs and alters expression of redox-related genes.

145 Hansen solubility parameters (HSP) were first calculated for the analytes and the extr

146 ms that cause hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth type 2 (CMT2) distal neurop

147 otor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neuropathy type V (dHMN

148 (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic lateral sclerosis (A

149 o syndromes - hereditary spastic paraplegia (HSP) and mycobacterial disease - thus occurred simultane

150 xia (HCA) and hereditary spastic paraplegia (HSP) are scarce.

151 mal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene th

152 Complex hereditary spastic paraplegia (HSP) is a genetic disorder that causes lower limb spasti

153 Hereditary spastic paraplegia (HSP) is a neurological syndrome characterized by degener

154 Hereditary spastic paraplegia (HSP) type 2 is a proteolipid protein (PLP1)-related gene

155 use a form of hereditary spastic paraplegia (HSP) with intellectual disability.

156 r REEP1 cause hereditary spastic paraplegia (HSP), a disease characterized by axonal degeneration.

157 inant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifested by lower

158 orphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease characterized by axon

159 s genes cause hereditary spastic paraplegia (HSP), a neurological disease involving dying-back degene

160 rted to cause hereditary spastic paraplegia (HSP), although their impact at the cellular level has no

161 ase (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism of its involvement in the progre

162 In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and

163 tive disease, hereditary spastic paraplegia (HSP).

164 ans with pure hereditary spastic paraplegia (HSP).

165 stin, lead to hereditary spastic paraplegia (HSP).

166 Hereditary spastic paraplegias (HSPs) are a group of diseases caused by corticospinal tr

167 Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodege

168 Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherite

169 The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegener

170 The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles

171 Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neuro

172 Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark

173 The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with

174 Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases charac

175 mplicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespre

176 ociated with hereditary spastic paraplegias (HSPs).

177 Hereditary spastic paraplegias (HSPs; SPG1-48) are inherited neurological disorders char

178 Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorder

179 of MeCP2 in homeostatic synaptic plasticity (HSP) at excitatory synapses.

180 Homeostatic synaptic plasticity (HSP) has been implicated in the development of hyperexci

181 Homeostatic synaptic plasticity (HSP) is an important form of negative feedback that prov

182 er factors, homeostatic synaptic plasticity (HSP) mediates posttraumatic epileptogenesis through unba

183 100,000 population) were the most prevalent HSPs.

184 rvive and undergo homeostatic proliferation (HSP) in the absence of Ag, although the cell-intrinsic m

185 nd promoter (LSP) and heavy strand promoter (HSP), located in the opposite DNA strands.

186 lin resistance inhibits vascular HS protein (HSP) 72 expression.

187 es can sustain HSF1 activity and HS protein (HSP) expression with age.

188 Heat shock protein (HSP) 27 is related to the pathogenesis of AF.

189 a drug that upregulates heat shock protein (HSP) 70 and HSP90.

190 Quercetin treatment and heat shock protein (HSP) 70 knockdown inhibit the NS5A-driven augmentation o

191 Liver heat shock protein (HSP) 70 levels (at 72 hours) and macrophages (CD68 at 7

192 proteins CD63, CD81, and heat shock protein (HSP) 70.

193 Increased heat shock protein (HSP) 72 expression in skeletal muscle prevents obesity a

194 Levels of heat shock protein (HSP) and interleukin 15 were measured by immunohistochem

195 olic and organelle-based heat-shock protein (HSP) chaperones ensure proper folding and function of na

196 ed through regulation of heat-shock protein (HSP) expression.

197 icroscopy to investigate Heat Shock Protein (HSP) gene conformation and 3D nuclear organization in bu

198 Our findings reveal that heat-shock protein (HSP) gene expression is suppressed during fasting in mou

199 pression of cell surface heat shock protein (HSP) glucose regulated protein 78 kDa (GRP78) was utiliz

200 on of HSP-16.48, a small heat shock protein (HSP) homolog of human alpha-crystallin.

201 e the active delivery of heat shock protein (HSP) targeted N-(2-hydroxypropyl)methacrylamide (HPMA) c

202 ell lymphoma (Bcl)-2 and heat shock protein (HSP)-70 expression.

203 dly up-regulate IDE in a heat shock protein (HSP)-like fashion.

204 ominant-negative form of heat shock protein (HSP)110 (HSP110DE9) expressed by cancer cells with MSI,

205 cobacterium tuberculosis heat shock protein (HSP)65 protect against the induction of murine autoimmun

206 Induction of heat shock protein (HSP)72 protects against obesity-induced insulin resistan

207 e, survivin bound to the heat shock protein (HSP)90, and therefore was resistant to proteasome degrad

208 mphomas (B-NHLs) express heat shock protein (HSP)H1/105 in function of their aggressiveness.

209 on fractionation of the heat-stable protein (HSP) fraction revealed further differences in the partit

210 h factor beta [TGFbeta]; heat shock protein [HSP]-70; at-risk alcohol use; and Child class B) we coul

211 factors (HSF genes) and heat shock proteins (HSP genes) is reduced in heat-sensitive transgenic plant

212 lar response to injury: heat shock proteins (HSP) -27 and -70, glial fibrillary acidic protein (GFAP)

213 -1 binds to immunogenic heat shock proteins (HSP) and alpha(2)M ligands to elicit T cell immune respo

214 ecular patterns such as heat shock proteins (HSPs) and high-mobility group box 1.

215 er-expressed a range of heat shock proteins (HSPs) and identified DNAJB2a (encoded by DNAJB2, and als

216 apsigargin up-regulated heat-shock proteins (HSPs) and interferon (IFN)-regulated genes in PBMCs from

217 m and distinct forms of heat shock proteins (HSPs) and proteins with chaperon functions while protein

218 Heat shock proteins (HSPs) are constitutively expressed in murine skin.

219 Heat shock proteins (HSPs) are induced by cellular stress and function as mol

220 hat expression level of Heat Shock Proteins (HSPs) can be used as a measurement of buffering levels,

221 Select members of the heat shock proteins (HSPs) family, such as gp96, elicit immune responses spec

222 It is established that heat shock proteins (HSPs) function as molecular helper proteins (chaperones)

223 For more than 50 years, heat shock proteins (HSPs) have been studied for their role in protecting cel

224 The induction of heat shock proteins (HSPs) inhibits both aminoglycoside- and cisplatin-induce

225 Heat shock proteins (HSPs) play a critical role in many intracellular process

226 potentially protective heat shock proteins (HSPs) such as Hsp70 and Hsp27.

227 rease the expression of heat shock proteins (HSPs) via a heat shock factor (HSF)-dependent mechanism.

228 group of genes encoding heat shock proteins (HSPs) was induced.

229 MRP-1 is chaperoned by heat shock proteins (HSPs) was investigated by immunoprecipitation, immunoflu

230 s for the expression of heat shock proteins (HSPs) were translated from LC-MRM to DI-MRM for implemen

231 d molecular chaperones (heat shock proteins (HSPs)) involved in Tau degradation and microtubule stabi

232 ation of genes encoding heat shock proteins (HSPs), a family of chaperones that refold or degrade mis

233 A number of Heat Shock Proteins (HSPs), in the extracellular environment, are immunogenic

234 ranscription factor for heat-shock proteins (HSPs), is known to interfere with the transcriptional ac

235 ssion of cytoprotective heat shock proteins (HSPs), molecular chaperones/cochaperones constituting a

236 Heat shock proteins (HSPs), produced in response to stress, are suppressive i

237 Induction of heat-shock proteins (HSPs), such as through activated heat shock transcriptio

238 ress, plants synthesize heat shock proteins (HSPs), which are often molecular chaperones and are unde

239 ncluding those encoding heat shock proteins (HSPs).

240 (DCs) for large stress/heat shock proteins (HSPs; e.g., hsp110 and grp170), attenuated an antitumor

241 not only in complicated HSP but also in pure HSP.

242 onally, 163 unrelated participants with pure HSP of unknown genetic cause were screened.

243 by the ATL1 gene known to be mutated in pure HSPs.

244 Henoch Schonlein Purpura (HSP) is the commonest systemic vasculitis of childhood t

245 we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functi

246 s and expands the understanding of recessive HSPs.

247 +) T cells with age, which underwent reduced HSP in the bone marrow.

248 otypic and genetic spectrum of SPAST-related HSP focused on 118 patients carrying SPAST mutations.

249 Promoter analyses of representative HSP genes suggested the involvement of hypoxia-inducible

250 n, we determined that TNIP1 likely represses HSPs through factors other than RAR, PPAR or NFkappaB de

251 Based on these results, HSP targeted DOC conjugates were selected for in vivo ev

252 Selected HSP genes (particularly DnaJB1) and IFN-related genes we

253 te physically and are colocalized on several HSP promoters.

254 Small HSPs have been shown previously to participate in many c

255 s associated with a destabilization of small HSPs as the result of a disrupted interaction between BA

256 its function in comparison to related small HSPs.

257 5A-mediated IRES activity, sequence-specific HSP recognition, and rational drug design.

258 nts that most frequently identified in SPG3A HSP patients, displayed wild-type levels of activity in

259 In response to acute thermal stress, HSP genes undergo intense intragenic folding interaction

260 During the ankle dorsiflexion task, HSP patients had an average 19 ms delay in reaction time

261 dominant and 3.3 for recessive ataxias) than HSP (prevalence, 4.1 per 100,000 population; 2.4 for dom

262 tive microtubule regulators, suggesting that HSP proteins work with microtubules to promote regenerat

263 cells of constructs of HIF1 subunits and the HSP promoter-driven reporter.

264 nsic mechanisms by which cytokines drive the HSP of memory T cells are not well understood.

265 ction in NK cells, which is important in the HSP anti-tumor immune response, and leaves their cytotox

266 udy suggests that age-related changes in the HSP mechanisms are sufficient to explain the difference

267 group of secreted chaperone proteins in the HSP-90 family that contained the amino acid sequence DDD

268 f HSPs are recapitulated in mice lacking the HSP-associated gene Reep1.

269 Finally, proteins of the HSP relay machinery (e.g. HOP/HSC70-HSP90 organizing pro

270 t domain within the N-terminal region of the HSP-16.48 protein that specified its function in compari

271 We propose that the HSP proteins spastin and atlastin promote axon regenerat

272 Finally, we show that the HSP-90 cochaperone spaghetti protein (SPAG) antagonizes

273 of mRNA for TrkB, all three caspases and the HSPs.

274 ssion of most of the 21 HSFs and some of the HSPs in the mutant plants.

275 stribution as primary defects underlying the HSPs, with clear relevance for other long axonopathies a

276 Therefore HSP hairpin-containing proteins are required for shaping

277 ranscription initiation factor TFAM binds to HSP and LSP in opposite directions, implying that the me

278 st axonal transport (FAT), may contribute to HSP pathogenesis.

279 ctivation domains, recruits holo-Mediator to HSP promoters in response to acute heat stress through c

280 15 or Med16, reduces Mediator recruitment to HSP promoters, whereas deletion of both abolishes it.

281 n contrast, we found that binding of TFAM to HSP and the subsequent recruitment of mtRNAP results in

282 ecently, several roles have been ascribed to HSPs in the immune system.

283 us-Merzbacher disease (PMD) to uncomplicated HSP type 2.

284 s demonstrate that NKRF is an unconventional HSP crucial for correct ribosomal RNA (rRNA) processing

285 ation was similarly impaired in neurons when HSP proteins atlastin, seipin, and spichthyin were reduc

286 al recessive AP-4 deficiency associated with HSP and mycobacterial disease, suggesting that AP-4 may

287 Next, Reep1 mutations associated with HSP were functionally tested in neuritic growth and dege

288 affected in several mutants associated with HSP, providing insights into disease pathogenesis.

289 ttenuating within 30 min, and correlate with HSP gene transcriptional activity.

290 tudy is a systematic review of families with HSP resulting from a population-based survey.

291 nnel, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia.

292 hree mutations in REEP2 in two families with HSP: a missense variant (c.107T>A [p.Val36Glu]) that seg

293 ve degeneration mainly occurs in humans with HSP-SPG4.

294 Forty-four patients with HSP (20 genetically defined cases and 24 without genetic

295 nd cervical cord (P < .001) in patients with HSP relative to healthy control subjects, regardless of

296 ical and cognitive features of patients with HSP who had brain and cervical cord damage were also inv

297 mily and screen the additional patients with HSP.

298 ion.A cohort of 102 children presenting with HSP to a secondary/tertiary level UK paediatric hospital

299 ring period for all patients presenting with HSP, which importantly prioritises patients according to

300 inding of HSF1 to heat shock elements within HSP gene promoters.